ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5752G>A (p.Val1918Met)

gnomAD frequency: 0.00001  dbSNP: rs958153438
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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 RCV000825985 SCV000967473 uncertain significance not specified 2019-02-28 criteria provided, single submitter clinical testing The p.Val1918Met variant in MYO7A has not been previously reported in individuals with hearing loss or Usher syndrome, but a missense variant at the same position (p.Val1918Glu) has been reported in the homozygous state in a Uyghur individual with profound sensorineural hearing loss and a consanguineous family history (Chen 2015). The p.Val1918Met variant has been identified in 0.001% (1/110230) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3.
Natera, Inc. RCV001830844 SCV002088518 uncertain significance Usher syndrome type 1B 2020-02-26 no assertion criteria provided clinical testing

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