Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000498786 | SCV000589811 | pathogenic | not provided | 2018-12-12 | criteria provided, single submitter | clinical testing | The E907X pathogenic variant in the MYBPC3 gene has not been reported as a pathogenic or benign to our knowledge. This variant is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the MYBPC3 gene have been reported in Human Gene Mutation Database in association with cardiomyopathy (Stenson et al., 2014). Furthermore, the E907X variant is not observed in large population cohorts (Lek et al., 2016). In summary, E907X in the MYBPC3 gene is interpreted as a pathogenic variant. |
Invitae | RCV001387628 | SCV001588300 | pathogenic | Hypertrophic cardiomyopathy | 2022-08-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu907*) in the MYBPC3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYBPC3 are known to be pathogenic (PMID: 19574547). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 432126). This premature translational stop signal has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 31737537). |