Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001804720 | SCV002052974 | uncertain significance | Cardiomyopathy | 2021-07-26 | criteria provided, single submitter | clinical testing | This missense variant replaces asparagine with threonine at codon 948 of the MYBPC3 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with dilated cardiomyopathy (PMID: 12379228). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
OMIM | RCV002508756 | SCV000029363 | pathogenic | Cardiomyopathy, dilated, 1MM | 2002-10-18 | no assertion criteria provided | literature only |