Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Petrovsky National Research Centre of Surgery, |
RCV000709616 | SCV000812280 | likely pathogenic | Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S | 2018-09-30 | criteria provided, single submitter | research | The p.K397E variant was not found in population databases (PM2 criteria); multiple lines of computational evidence support a deleterious effect on gene/gene product (PP3 criteria). Also the p.K397E variant was detected in two affected family members (PP1 criteria) and is located in well-studied functional domain without benign variation. According to Cardioclassifier (https://www.cardioclassifier.org) analysis, the p.K397E variant is located within the HCM cluster of MYH7 where variants, when found in a case, are highly likely to be pathogenic. The etiological fraction (EF, the prior probability that a variant, identified in a case, is pathogenic) for the p.K397E variant is 0.97. Because 2 moderate and 2 supporting criteria are present, we consider the p.K397E variant to be likely pathogenic. |