ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2636A>C (p.Lys879Thr)

dbSNP: rs1591374351
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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 RCV000825984 SCV000967472 uncertain significance not specified 2019-02-05 criteria provided, single submitter clinical testing The p.Lys879Thr variant in MYO7A has not been previously reported in individuals with hearing loss or Usher syndrome and was absent from large population studies. Computational prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, BP4.
Natera, Inc. RCV001825686 SCV002086633 uncertain significance Usher syndrome type 1B 2021-03-28 no assertion criteria provided clinical testing

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