Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155671 | SCV000205381 | uncertain significance | not specified | 2013-04-12 | criteria provided, single submitter | clinical testing | The Asp285Asn variant in MYBPC3 has not been reported in individuals with cardio myopathy. Data from large population studies is insufficient to assess the frequ ency of this variant. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. At this time, additional information is ne eded to fully assess the clinical significance of this variant. |