ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1924C>T (p.Gln642Ter)

dbSNP: rs727504293
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Total submissions: 3
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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, Mass General Brigham Personalized Medicine RCV000211801 SCV000203968 pathogenic Hypertrophic cardiomyopathy 2013-03-04 no assertion criteria provided clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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