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]

x This classification has been retracted/unpublished!

Link to SEPIO compliant JSON-LD document

Variant: NM_004004.6(GJB2):c.384C>T (p.Ile128=)

CA134968

44746 (ClinVar)

Gene: GJB2

Condition: nonsyndromic genetic deafness

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: d17e80c8-80c5-44fe-99c2-89e6417eb017

HGVS expressions

NM_004004.6:c.384C>T

NM_004004.6(GJB2):c.384C>T (p.Ile128=)

NC_000013.11:g.20189198G>A

CM000675.2:g.20189198G>A

NC_000013.10:g.20763337G>A

CM000675.1:g.20763337G>A

NC_000013.9:g.19661337G>A

NG_008358.1:g.8778C>T

NM_004004.5:c.384C>T

ENST00000382844.1:c.384C>T

ENST00000382848.4:c.384C>T

Uncertain Significance

PM3 BP7 BP2

Evidence Links 1

Expert Panel

Hearing Loss VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Hearing Loss VCEP

This curation was a test to see if all comments on PMIDs are published to erepo whether or not they were entered by a VCEP or a general VCI user. This variant has not been expertly reviewed and should not be published to ClinVar

PM3

PubMed:11102979

BP7

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

BP2

Variant identified in a proband with moderate-severe SNHL. Also carried suspected pathogenic variants: c.1A>G (p.Met1?) and c.35delG (p.Gly12fs) (SCV000061510.5).

PubMed:11102979

Approved on: 2019-11-14

Published on: 2019-11-14

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