Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Color Diagnostics, |
RCV001179502 | SCV001344172 | pathogenic | Cardiomyopathy | 2019-11-15 | criteria provided, single submitter | clinical testing | This variant deletes 11 nucleotides in exon 2 of the MYBPC3 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MYBPC3 function is a known mechanism of disease. Based on the available evidence, this variant is classified as Pathogenic. |
| Labcorp Genetics |
RCV003586277 | SCV004264956 | pathogenic | Hypertrophic cardiomyopathy | 2024-01-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser85Glnfs*24) 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 variant has not been reported in the literature in individuals affected with MYBPC3-related conditions. ClinVar contains an entry for this variant (Variation ID: 920646). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV005372565 | SCV006035954 | pathogenic | Cardiovascular phenotype | 2025-02-28 | criteria provided, single submitter | clinical testing | The c.252_262del11 pathogenic mutation, located in coding exon 2 of the MYBPC3 gene, results from a deletion of 11 nucleotides at nucleotide positions 252 to 262, causing a translational frameshift with a predicted alternate stop codon (p.S85Qfs*24). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. |
| Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV005372565 | SCV006066422 | likely pathogenic | Cardiovascular phenotype | 2020-07-20 | criteria provided, single submitter | clinical testing |