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.13217T>C (p.Leu4406Pro)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA1393328

556334 (ClinVar)

Gene: USH2A

Condition: Usher syndrome

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: fe6a89b4-9531-4e0d-bb24-5664264466f0

Approved on: 2020-05-20

Published on: 2020-05-20

HGVS expressions

NM_206933.3:c.13217T>C

NM_206933.3(USH2A):c.13217T>C (p.Leu4406Pro)

NC_000001.11:g.215674694A>G

CM000663.2:g.215674694A>G

NC_000001.10:g.215848036A>G

CM000663.1:g.215848036A>G

NC_000001.9:g.213914659A>G

NG_009497.1:g.753703T>C

NG_009497.2:g.753755T>C

NM_206933.2:c.13217T>C

NM_206933.4:c.13217T>C

ENST00000307340.7:c.13217T>C

Uncertain Significance

PM2

Evidence Links 0

Expert Panel

Hearing Loss VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Hearing Loss VCEP

The c.13217T>C (p.Leu4406Pro) variant in USH2A is present in 5/24954 (0.00078% CI 95%) of African alleles in gnomAD v2.1.1, which is a low enough frequency to award PM2 based on the thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive Usher syndrome (PM2). This variant has been detected in one patient with Usher syndrome, however, they also carried a benign variant in trans (PM3_Supporting not met; ClinVar ID: 48488; PMID: 24944099). In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: PM2.

PM2

Present in 5/24954 (0.00078% CI 95%) African alleles in gnomAD v2.1.1

Curation History

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