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]

Variant: NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA354063

224753 (ClinVar)

Gene: USH2A

Condition: Usher syndrome

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: ba64373e-1f84-4b4e-9c18-a3c165795d50

Approved on: 2020-05-26

Published on: 2020-05-26

HGVS expressions

NM_206933.3:c.6446C>A

NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln)

NC_000001.11:g.216000442G>T

CM000663.2:g.216000442G>T

NC_000001.10:g.216173784G>T

CM000663.1:g.216173784G>T

NC_000001.9:g.214240407G>T

NG_009497.1:g.427955C>A

NG_009497.2:g.428007C>A

NM_206933.2:c.6446C>A

NM_206933.4:c.6446C>A

ENST00000307340.7:c.6446C>A

Likely Pathogenic

PP4 PM2 PM3_Strong

Evidence Links 3

Expert Panel

Hearing Loss VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Hearing Loss VCEP

The c.6446C>A (p.Pro2149Gln) variant in USH2A was absent from gnomAD (PM2). It has been detected in one patient with Usher syndrome and one patient with isolated Retinitis pigmentosa, both of whom carried another suspected pathogenic variant in trans (PM3_Strong; PP4; PMIDs: 26872967, 29074561, 28041643; ClinVar ID: 2356). In summary, this variant meets criteria to be classified as likely pathogenic for autosomal recessive Usher syndrome based on the ACMG/AMP criteria applied as specified by the Hearing Loss Expert Panel: PM2, PM3_Strong, PP4.

PP4

PubMed:29074561

PM2

Absent from gnomAD v2.1.1 and v3

PM3_Strong

PubMed:28041643

PubMed:26872967

Curation History

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