Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000158476 | SCV000208411 | pathogenic | not provided | 2020-10-28 | criteria provided, single submitter | clinical testing | Reported in ClinVar as a pathogenic variant (ClinVar Variant ID# 181149; Landrum et al., 2016); Not observed in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31737537) |
| Ambry Genetics | RCV000618015 | SCV000736668 | pathogenic | Cardiovascular phenotype | 2023-12-01 | criteria provided, single submitter | clinical testing | The c.1776_1777delGT pathogenic mutation, located in coding exon 18 of the MYBPC3 gene, results from a deletion of two nucleotides at nucleotide positions 1776 to 1777, causing a translational frameshift with a predicted alternate stop codon (p.S593Pfs*11). 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. |
| Labcorp Genetics |
RCV001043629 | SCV001207385 | pathogenic | Hypertrophic cardiomyopathy | 2024-10-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser593Profs*11) 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: 181149). For these reasons, this variant has been classified as Pathogenic. |
| Color Diagnostics, |
RCV001187173 | SCV001353888 | pathogenic | Cardiomyopathy | 2018-11-08 | criteria provided, single submitter | clinical testing | This variant deletes 2 nucleotides in exon 17 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. To our knowledge, functional assays have not been performed for this variant nor has this variant 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 available evidence, this variant is classified as Pathogenic. |
| CHEO Genetics Diagnostic Laboratory, |
RCV001187173 | SCV003838946 | pathogenic | Cardiomyopathy | 2021-08-09 | criteria provided, single submitter | clinical testing |