ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.2839C>T (p.Arg947Cys)

gnomAD frequency: 0.00001  dbSNP: rs757658628
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000615483 SCV000712327 uncertain significance not specified 2016-08-02 criteria provided, single submitter clinical testing The p.Arg947Cys variant in MYH14 has not been previously reported in individuals with hearing loss, but has been identified in 1/8084 European chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs75 7658628). Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive e nough to determine pathogenicity. In summary, the clinical significance of the p .Arg947Cys variant is uncertain.
Baylor Genetics RCV001331337 SCV001523360 uncertain significance Autosomal dominant nonsyndromic hearing loss 4A 2019-02-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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