Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151524 | SCV000199634 | uncertain significance | not specified | 2013-09-08 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Met2205Ile vari ant in MYO7A has not been reported in individuals with hearing loss, but has bee n identified in 0.1% (4/4072) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs200359303). Alth ough this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational analyses (biochemical a mino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Met2205Ile variant may not impact the protein, though this information is n ot predictive enough to rule out pathogenicity. In summary, the clinical signifi cance of this variant cannot be determined with certainty; however based upon th e computational data and the presence of the variant in the general population, we would lean towards a more likely benign role. |
Invitae | RCV001033987 | SCV001197311 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001033987 | SCV001788910 | uncertain significance | not provided | 2020-02-25 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |