ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.583A>G (p.Met195Val) (rs532203068)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hearing Loss Variant Curation Expert Panel RCV001252673 SCV001428432 likely pathogenic Nonsyndromic hearing loss and deafness 2020-07-15 reviewed by expert panel curation The c.583A>G (p.Met195Val) variant in GJB2 was present in 0.000074% (4/18394, CI 95%) of East Asisan alleles in gnomAD v2.1.1 and was absent from gnomAD v3 (PM2). This variant has been identified in 3 probands with hearing loss in whom another pathogenic or suspected-pathogenic variant was found in trans (PM3_Strong; PMID: 24013081, 20497192, 30146550). It has also been identified in several probands with hearing loss in whom a second variant was not identified (PMID: 23555729, 19366456, 19125024, 27627659, 24507663). The REVEL computational prediction tool produced a score of 0.962, which is above the threshold necessary to apply PP3. In summary, this variant meets criteria to be classified as likely pathogenic for autosomal recessive nonsyndromic hearing loss based on the ACMG/AMP criteria applied as specified by the Hearing Loss Expert Panel (PM2, PM3_Strong, PP3).
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490342 SCV000267341 uncertain significance Deafness, autosomal recessive 1A; Deafness, autosomal dominant 3a 2016-03-18 criteria provided, single submitter reference population
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000505510 SCV000599761 likely pathogenic Deafness, autosomal recessive 1A 2017-05-09 criteria provided, single submitter clinical testing
Counsyl RCV000505510 SCV000800789 likely pathogenic Deafness, autosomal recessive 1A 2017-10-06 no assertion criteria provided clinical testing

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