Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000458057 | SCV000546444 | pathogenic | Hypertrophic cardiomyopathy | 2016-05-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in MYBPC3 are known to be pathogenic (PMID: 19574547). This sequence change inserts 1 nucleotide in exon 2 of the MYBPC3 mRNA (c.65_66insG), causing a frameshift at codon 23. This creates a premature translational stop signal (p.Ala23Argfs*26) and is expected to result in an absent or disrupted protein product. |
Color Diagnostics, |
RCV001805066 | SCV002053028 | pathogenic | Cardiomyopathy | 2021-02-18 | criteria provided, single submitter | clinical testing | This variant inserts 1 nucleotide 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. To our knowledge, 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 (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |