ClinVar Miner

Submissions for variant NM_005379.4(MYO1A):c.2920G>A (p.Glu974Lys)

dbSNP: rs370708976
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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 RCV000155617 SCV000205325 uncertain significance not specified 2013-04-04 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Glu974Lys varia nt in MYO1A has not been reported in individuals affected with hearing loss or i n large population studies. Computational analyses (biochemical amino acid prope rties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Glu974Lys variant may not impact the protein, though this information is not predictive en ough to rule out pathogenicity. In summary, the clinical significance of this va riant cannot be determined with certainty; however, based upon low conservation and computational predictions, we lean towards a more likely benign role.
GeneDx RCV001753544 SCV002005832 likely benign not provided 2018-09-09 criteria provided, single submitter clinical testing

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