ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser)

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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,Partners HealthCare Personalized Medicine RCV000825401 SCV000966698 uncertain significance not specified 2018-08-30 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Arg83Ser variant in MYO7A was identified by our laboratory in 1 Yemeni family with hearin g loss. In this family, the variant was confirmed to be homozygous in two siblin gs with hearing loss, heterozygous in the unaffected parents, and absent from an unaffected sibling. This variant was not identified in large population studies . Computational prediction tools and conservation analysis suggest that the p.Ar g83Ser variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, while there is some suspicion fo r a pathogenic role, the clinical significance of the p.Arg83Ser variant is unce rtain. ACMG/AMP Criteria applied: PM2, PP3, PP1, PM3_Supporting.
Center for Statistical Genetics, Columbia University RCV000679823 SCV000804814 pathogenic Deafness 2018-09-10 no assertion criteria provided research

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