ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.4297G>A (p.Glu1433Lys)

gnomAD frequency: 0.00006  dbSNP: rs771755654
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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 RCV000217000 SCV000272007 uncertain significance not specified 2016-03-01 criteria provided, single submitter clinical testing The p.Glu1433Lys variant in MYH14 has not been previously reported in individual s with hearing loss, but has been identified in 3/59206 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs 771755654). Although this variant has been seen in the general population, its f requency is not high enough to rule out a pathogenic role. Computational predict ion tools and conservation analyses suggest that the p.Glu1433Lys variant may im pact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Glu1433Lys variant is uncertain.
GeneDx RCV001731442 SCV001982542 uncertain significance not provided 2021-03-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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