Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036041 | SCV000059693 | uncertain significance | not specified | 2013-02-12 | criteria provided, single submitter | clinical testing | The Arg378Pro variant in MYO7A has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino ac id properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Ar g378Pro variant may impact the protein, though this information is not predictiv e enough to determine pathogenicity. Additional data is needed to determine the clinical significance of this variant. |