Variant: NM_001033855.3(DCLRE1C):c.34C>T (p.Pro12Ser)

CA376066033

2062424 (ClinVar)

Gene: DCLRE1C

Condition: severe combined immunodeficiency due to DCLRE1C deficiency

Inheritance Mode: Autosomal recessive inheritance

UUID: e1296883-1b81-4fe8-bb23-9682bb0a44bd

Approved on: 2024-04-01

Published on: 2024-04-01

HGVS expressions

NM_001033855.3:c.34C>T
NM_001033855.3(DCLRE1C):c.34C>T (p.Pro12Ser)
NC_000010.11:g.14953977G>A
CM000672.2:g.14953977G>A
NC_000010.10:g.14995976G>A
CM000672.1:g.14995976G>A
NC_000010.9:g.15035982G>A
NG_007276.1:g.5119C>T
ENST00000378241.6:c.34C>T
ENST00000456122.2:c.34C>T
ENST00000489161.2:c.34C>T
ENST00000492201.6:c.34C>T
ENST00000697047.1:c.34C>T
ENST00000697070.1:c.34C>T
ENST00000697071.1:c.34C>T
ENST00000697072.1:c.34C>T
ENST00000697073.1:c.34C>T
ENST00000697074.1:c.34C>T
ENST00000697075.1:c.34C>T
ENST00000697076.1:c.34C>T
ENST00000697077.1:c.34C>T
ENST00000697078.1:c.34C>T
ENST00000697080.1:c.34C>T
ENST00000697081.1:c.34C>T
ENST00000697082.1:c.34C>T
ENST00000697083.1:c.34C>T
ENST00000697084.1:c.34C>T
ENST00000697085.1:c.34C>T
ENST00000697087.1:c.34C>T
ENST00000697088.1:c.34C>T
ENST00000697089.1:c.34C>T
ENST00000697091.1:n.95C>T
ENST00000378278.7:c.34C>T
ENST00000357717.6:c.-171C>T
ENST00000378241.5:c.-539C>T
ENST00000378246.6:c.-256C>T
ENST00000378249.5:c.-204C>T
ENST00000378254.5:c.-458C>T
ENST00000378255.5:c.-780C>T
ENST00000378258.5:c.-412C>T
ENST00000378278.6:c.34C>T
ENST00000378289.8:c.34C>T
ENST00000396817.6:c.-734C>T
ENST00000418843.5:c.-495C>T
ENST00000456122.1:c.-663C>T
NM_001033855.2:c.34C>T
NM_001033857.2:c.-412C>T
NM_001033858.2:c.-734C>T
NM_001289076.1:c.-171C>T
NM_001289077.1:c.-458C>T
NM_001289078.1:c.-204C>T
NM_001289079.1:c.-780C>T
NM_022487.3:c.-256C>T
NR_110297.1:n.456C>T
NM_001350965.1:c.34C>T
NM_001350966.1:c.-204C>T
NM_001350967.1:c.-412C>T
NR_146960.1:n.456C>T
NR_146961.1:n.456C>T
NR_146962.1:n.456C>T
NM_001033857.3:c.-412C>T
NM_001033858.3:c.-734C>T
NM_001289076.2:c.-171C>T
NM_001289077.2:c.-458C>T
NM_001289078.2:c.-204C>T
NM_001289079.2:c.-780C>T
NM_001350965.2:c.34C>T
NM_001350966.2:c.-204C>T
NM_001350967.2:c.-412C>T
NM_022487.4:c.-256C>T
NR_110297.2:n.120C>T
NR_146961.2:n.120C>T

Uncertain Significance

• Met criteria codes: PM2_Supporting

• Not Met criteria codes: PS3 BS2

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

Evidence submitted by expert panel

Severe Combined Immunodeficiency Disease VCEP

The c.34C>T (NM_001033855.3) variant in DCLRE1C is a missense variant predicted to cause substitution of Proline by Serine at amino acid 12 (p.Pro12Ser). 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 DCLRE1C-related conditions or in functional studies. In summary, this variant is classified as a variant of uncertain significance for autosomal recessive severe combined immunodeficiency due to DCLRE1C deficiency, based on ACMG/AMP criteria applied, as specified by the ClinGen SCID VCEP (specification version 1.0): PM2_Supporting.

Met criteria codes

• PM2_Supporting: This variant is absent from gnomAD v4 (PM2_Supporting).

Not Met criteria codes

• PS3: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• BS2: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline