Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000619467 | SCV000740116 | pathogenic | Cardiovascular phenotype | 2017-01-10 | criteria provided, single submitter | clinical testing | The p.Q642* pathogenic mutation (also known as c.1924C>T), located in coding exon 20 of the MYBPC3 gene, results from a C to T substitution at nucleotide position 1924. This changes the amino acid from a glutamine to a stop codon within coding exon 20. This alteration has previously been described in a hypertrophic cardiomyopathy (HCM) cohort (Page SP et al. Circ Cardiovasc Genet. 2012;5:156-66). In addition to the clinical data presented in the literature, 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 | RCV000211801 | SCV001398720 | pathogenic | Hypertrophic cardiomyopathy | 2023-05-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 177705). This premature translational stop signal has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 22267749, 27532257). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln642*) 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). |
Laboratory for Molecular Medicine, |
RCV000211801 | SCV000203968 | pathogenic | Hypertrophic cardiomyopathy | 2013-03-04 | no assertion criteria provided | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |