Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000620067 | SCV000740108 | pathogenic | Cardiovascular phenotype | 2017-01-05 | criteria provided, single submitter | clinical testing | The c.3228_3229insT pathogenic mutation, located in coding exon 30 of the MYBPC3 gene, results from an insertion of one nucleotide at position 3228, causing a translational frameshift with a predicted alternate stop codon (p.A1077Cfs*5). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Invitae | RCV003748264 | SCV004451277 | pathogenic | Hypertrophic cardiomyopathy | 2023-03-30 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 520334). This variant has not been reported in the literature in individuals affected with MYBPC3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala1077Cysfs*5) 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). |