ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.4433G>A (p.Arg1478Gln)

gnomAD frequency: 0.00003  dbSNP: rs757168957
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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 RCV000825963 SCV000967451 uncertain significance not specified 2018-07-20 criteria provided, single submitter clinical testing The p.Arg1478Gln variant in MYH14 has not been previously reported in individual s with hearing loss, but has been identified in 3/30570 South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org). C omputational prediction tools and conservation analysis suggest that the p.Arg14 78Gln variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Arg1478Gln variant is uncertain. ACMG/AMP Criteria applied: PP3.

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