ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.400T>C (p.Trp134Arg)

dbSNP: rs878853241
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002265701 SCV002548296 uncertain significance not specified 2022-05-12 criteria provided, single submitter clinical testing Variant summary: GJB2 c.400T>C (p.Trp134Arg) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 250738 control chromosomes. c.400T>C has been reported in the literature in at least one individual affected with Non-Syndromic Hearing Loss. These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002494615 SCV002782175 uncertain significance Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominant nonsyndromic hearing loss 3A; X-linked mixed hearing loss with perilymphatic gusher 2021-12-11 criteria provided, single submitter clinical testing
Laboratory of Prof. Karen Avraham, Tel Aviv University RCV000225073 SCV000282011 pathogenic Autosomal recessive nonsyndromic hearing loss 12 2016-02-19 no assertion criteria provided research Congenital, profound HL

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