Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

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Variant: NM_001033855.3(DCLRE1C):c.509A>G (p.Asp170Gly)

CA376059912

1965651 (ClinVar)

Gene: DCLRE1C

Condition: severe combined immunodeficiency due to DCLRE1C deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 69773a12-b091-412d-a2f8-af7c565297e0

Approved on: 2024-06-13

Published on: 2024-06-13

HGVS expressions

NM_001033855.3:c.509A>G

NM_001033855.3(DCLRE1C):c.509A>G (p.Asp170Gly)

NC_000010.11:g.14934731T>C

CM000672.2:g.14934731T>C

NC_000010.10:g.14976730T>C

CM000672.1:g.14976730T>C

NC_000010.9:g.15016736T>C

NG_007276.1:g.24365A>G

ENST00000378241.6:c.*556A>G

ENST00000456122.2:c.*695A>G

ENST00000489161.2:c.*287A>G

ENST00000492201.6:c.509A>G

ENST00000697047.1:c.509A>G

ENST00000697070.1:c.509A>G

ENST00000697071.1:c.*429A>G

ENST00000697072.1:c.509A>G

ENST00000697073.1:c.*287A>G

ENST00000697074.1:c.*287A>G

ENST00000697075.1:c.509A>G

ENST00000697076.1:c.509A>G

ENST00000697077.1:c.*220A>G

ENST00000697078.1:c.*216A>G

ENST00000697079.1:n.213A>G

ENST00000697080.1:c.*373A>G

ENST00000697081.1:c.*126A>G

ENST00000697082.1:c.*695A>G

ENST00000697083.1:c.*369A>G

ENST00000697084.1:c.509A>G

ENST00000697085.1:c.*276A>G

ENST00000697086.1:n.2946A>G

ENST00000697087.1:c.*429A>G

ENST00000697088.1:c.*126A>G

ENST00000697089.1:c.*429A>G

ENST00000697090.1:n.517A>G

ENST00000378278.7:c.509A>G

ENST00000357717.6:c.164A>G

ENST00000378241.5:c.149A>G

ENST00000378246.6:c.164A>G

ENST00000378249.5:c.164A>G

ENST00000378254.5:c.149A>G

ENST00000378255.5:c.149A>G

ENST00000378258.5:c.149A>G

ENST00000378278.6:c.509A>G

ENST00000378289.8:c.509A>G

ENST00000396817.6:c.149A>G

ENST00000418843.5:c.71A>G

ENST00000456122.1:c.164A>G

NM_001033855.2:c.509A>G

NM_001033857.2:c.149A>G

NM_001033858.2:c.149A>G

NM_001289076.1:c.164A>G

NM_001289077.1:c.149A>G

NM_001289078.1:c.164A>G

NM_001289079.1:c.149A>G

NM_022487.3:c.164A>G

NR_110297.1:n.1143A>G

NM_001350965.1:c.509A>G

NM_001350966.1:c.164A>G

NM_001350967.1:c.149A>G

NR_146960.1:n.931A>G

NR_146961.1:n.960A>G

NR_146962.1:n.931A>G

NM_001033857.3:c.149A>G

NM_001033858.3:c.149A>G

NM_001289076.2:c.164A>G

NM_001289077.2:c.149A>G

NM_001289078.2:c.164A>G

NM_001289079.2:c.149A>G

NM_001350965.2:c.509A>G

NM_001350966.2:c.164A>G

NM_001350967.2:c.149A>G

NM_022487.4:c.164A>G

NR_110297.2:n.807A>G

NR_146961.2:n.624A>G

Uncertain Significance

PM2_Supporting

Evidence Links 0

Expert Panel

Severe Combined Immunodeficiency Disease VCEP

Criteria Specification Information

Criteria Specification: ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DCLRE1C Version 1.0.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Severe Combined Immunodeficiency Disease VCEP

The c.509A>G (NM_001033855.3) variant in DCLRE1C is a missense variant predicted to cause the substitution of Aspartic Acid by Glycine at amino acid 170 (p.Asp170Gly). This variant is absent from gnomAD v4 (PM2_Supporting). To our knowledge, this variant has not been reported in the literature in individuals affected with SCID/DCLRE1C-related conditions or in functional studies. In summary, this variant meets the criteria to be classified as a variant of uncertain significance for autosomal recessive severe combined immunodeficiency due to DCLRE1C deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen SCID VCEP: PM2_Supporting (VCEP specifications version 1).

PM2_Supporting

This variant is absent from gnomAD v4 (PM2_Supporting).

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