ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.5809C>T (p.Arg1937Cys)

dbSNP: rs749465098
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000230123 SCV001285843 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003233511 SCV003932175 uncertain significance not provided 2023-03-06 criteria provided, single submitter clinical testing PM1, PM2, PP3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000230123 SCV005380608 pathogenic Autosomal recessive nonsyndromic hearing loss 3 2024-08-12 criteria provided, single submitter clinical testing Variant summary: MYO15A c.5809C>T (p.Arg1937Cys) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 248044 control chromosomes (gnomAD). c.5809C>T has been reported in the literature in multiple individuals affected with Autosomal Recessive Nonsyndromic Hearing Loss 3 (Sloan-Heggen_2015, Rehman_2016). These data indicate that the variant is very likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 26445815, 27375115). ClinVar contains an entry for this variant (Variation ID: 242333). Based on the evidence outlined above, the variant was classified as pathogenic.
Center for Statistical Genetics, Columbia University RCV000230123 SCV000282041 pathogenic Autosomal recessive nonsyndromic hearing loss 3 2016-06-06 no assertion criteria provided research

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