Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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. |
Gene |
RCV001753544 | SCV002005832 | likely benign | not provided | 2018-09-09 | criteria provided, single submitter | clinical testing |