Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038980 | SCV000062658 | likely pathogenic | Rare genetic deafness | 2013-04-05 | criteria provided, single submitter | clinical testing | The Gly2263Asp variant in MYO15A has not been reported in the literature nor pre viously identified by our laboratory in any other families. Computational analys es (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and S IFT) suggest that the Gly2263Asp variant may impact the protein, though this inf ormation alone is not sufficient to assume pathogenicity. The variant was found to be in trans with a second pathogenic variant in MYO15A in this family, sugges ting that this variant is more likely to be pathogenic. In summary, this variant is likely to be pathogenic, though additional evidence is required to fully est ablish its clinical significance. |