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]

Link to SEPIO compliant JSON-LD document

Variant: NM_001042537.1(SLC9A6):c.171C>G (p.Ile57Met)

CA10524605

379120 (ClinVar)

Gene: SLC9A6

Condition: Christianson syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 49d2f73b-f691-4301-b4ad-d1ad231e5274

HGVS expressions

NM_001042537.1:c.171C>G

NM_001042537.1(SLC9A6):c.171C>G (p.Ile57Met)

ENST00000370695.8:c.171C>G

ENST00000370701.6:c.15C>G

ENST00000630721.3:c.15C>G

ENST00000636092.1:c.15C>G

ENST00000636347.1:c.15C>G

ENST00000637195.1:c.15C>G

ENST00000637234.1:c.15C>G

ENST00000637581.1:c.15C>G

ENST00000678163.1:c.171C>G

ENST00000370695.6:c.171C>G

ENST00000370698.7:c.171C>G

ENST00000370701.5:c.15C>G

ENST00000627534.2:c.15C>G

NM_001177651.1:c.15C>G

NM_006359.2:c.171C>G

NM_001330652.1:c.15C>G

NM_001177651.2:c.15C>G

NM_001330652.2:c.15C>G

NM_006359.3:c.171C>G

NM_001042537.2:c.171C>G

NM_001379110.1:c.15C>G

NC_000023.11:g.135985673C>G

CM000685.2:g.135985673C>G

NC_000023.10:g.135067832C>G

CM000685.1:g.135067832C>G

NC_000023.9:g.134895498C>G

NG_017160.1:g.5247C>G

Likely Benign

BP4 BS1

Evidence Links 0

Expert Panel

Rett and Angelman-like Disorders VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The allele frequency of the p.Ile5Met variant in SLC9A6 is 0.013% in Ashkenazi Jewish sub population in gnomAD, which is high enough to be classified as likely benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). Computational analysis prediction tools suggest that the p.Ile5Met variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Ile5Met variant in SLC9A6 is classified as likely benign based on the ACMG/AMP criteria (BS1, BP4).

BP4

Computational analysis prediction tools suggest that the p.Ile5Met variant does not have a deleterious impact; however this information does not predict clinical significance on its own

BS1

Approved on: 2021-03-26

Published on: 2021-05-17

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