Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Genetics and Molecular Cardiology, |
RCV000201500 | SCV000256173 | likely pathogenic | Hypertrophic cardiomyopathy 4 | criteria provided, single submitter | clinical testing | ||
DASA | RCV001836640 | SCV002097310 | pathogenic | MYBPC3-Related Disorders | 2022-02-14 | criteria provided, single submitter | clinical testing | The c.3662del;p.(Leu1221Argfs*16) is a null frameshift variant in the MYBPC3 gene and predicts alteration of the nonsense-mediate decay - NMD is present in a relevant exon to the transcript -PVS1. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 407321) - PS4_supporting. This variant is not present in population databases (rs863225107, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is pathogenic. |
Invitae | RCV001853228 | SCV002173787 | pathogenic | Hypertrophic cardiomyopathy | 2023-10-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu1221Argfs*16) 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). This premature translational stop signal has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 24093860, 30297972). ClinVar contains an entry for this variant (Variation ID: 217479). For these reasons, this variant has been classified as Pathogenic. |