ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.605G>T (p.Cys202Phe) (rs104894406)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV001659701 SCV001879904 likely pathogenic not provided 2020-11-25 criteria provided, single submitter clinical testing This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant segregates with disease in a single family with autosomal dominant isolated, mild to moderate, postlingual hearing impairment. This family exhibited variability in the severity of hearing loss, which was restricted to high frequencies during the first decade and progressed to middle frequencies between 10 and 50 years of age (PMID 10807696). A majority of pathogenic variants in this gene are associated with autosomal recessive nonsyndromic hearing loss with cases of autosomal dominant hearing loss being more rare. Assessment of experimental evidence suggests this variant results in abnormal protein function. The variant causes impaired intercellular trafficking (PMID: 20096356, 21040787, 23967136). Computational tools predict that this variant is damaging.
OMIM RCV000018544 SCV000038826 pathogenic Deafness, autosomal dominant 3a 2000-05-01 no assertion criteria provided literature only
GeneReviews RCV000018544 SCV000574691 pathogenic Deafness, autosomal dominant 3a 2016-12-22 no assertion criteria provided literature only

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