Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000217000 | SCV000272007 | uncertain significance | not specified | 2016-03-01 | criteria provided, single submitter | clinical testing | The p.Glu1433Lys variant in MYH14 has not been previously reported in individual s with hearing loss, but has been identified in 3/59206 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs 771755654). Although this variant has been seen in the general population, its f requency is not high enough to rule out a pathogenic role. Computational predict ion tools and conservation analyses suggest that the p.Glu1433Lys variant may im pact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Glu1433Lys variant is uncertain. |
Gene |
RCV001731442 | SCV001982542 | uncertain significance | not provided | 2021-03-16 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |