ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.5995C>A (p.Arg1999Ser)

dbSNP: rs1375906074
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Total submissions: 1
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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 RCV000825964 SCV000967452 uncertain significance not specified 2018-09-06 criteria provided, single submitter clinical testing The p.Arg1999Ser variant in MYH14 has not been previously reported in individual s with hearing loss and was absent from large population studies. Computational prediction tools and conservation analysis suggest that the p.Arg1999Ser variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Arg1999S er variant is uncertain. ACMG/AMP Criteria applied: BP4, PM2.

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