ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.4441C>T (p.Arg1481Cys)

gnomAD frequency: 0.00003  dbSNP: rs727503227
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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 RCV000151198 SCV000199029 uncertain significance not specified 2014-02-07 criteria provided, single submitter clinical testing The Arg1481Cys variant in MYH14 has not been reported in individuals with hearin g loss and data from large population studies is insufficient to assess the freq uency of this variant. Computational analyses (biochemical amino acid properties , conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support fo r or against an impact to the protein. In summary, additional information is nee ded to determine the clinical significance of this variant.
GeneDx RCV003320577 SCV004025735 uncertain significance not provided 2023-02-10 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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