ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) (rs111033401)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037874 SCV000061536 likely pathogenic Rare genetic deafness 2008-10-08 criteria provided, single submitter clinical testing
Counsyl RCV000666282 SCV000790546 pathogenic Deafness, autosomal recessive 1A 2017-03-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001293597 SCV001482214 pathogenic Nonsyndromic hearing loss and deafness 2021-02-01 criteria provided, single submitter clinical testing Variant summary: GJB2 c.9G>A (p.Trp3X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 249290 control chromosomes (gnomAD). c.9G>A has been reported in the literature in multiple individuals affected with Non-Syndromic Hearing Loss (e.g. Dai_2009, Li_2014, Jung_2017, Yuan_2020). These data indicate that the variant is very likely to be associated with disease. A co-occurrence with two other pathogenic variants in the same sample has been reported following internal testing (GJB2 c.101T>C, p.Met34Thr; GJB2 c.35delG, p.Gly12ValfsX2). Two ClinVar submitters (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital RCV000666282 SCV000902322 pathogenic Deafness, autosomal recessive 1A 2019-02-26 no assertion criteria provided case-control

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