Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825963 | SCV000967451 | uncertain significance | not specified | 2018-07-20 | criteria provided, single submitter | clinical testing | The p.Arg1478Gln variant in MYH14 has not been previously reported in individual s with hearing loss, but has been identified in 3/30570 South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org). C omputational prediction tools and conservation analysis suggest that the p.Arg14 78Gln variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Arg1478Gln variant is uncertain. ACMG/AMP Criteria applied: PP3. |