ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3300C>A (p.Tyr1100Ter)

dbSNP: rs863225113
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000201482 SCV000256184 likely pathogenic Hypertrophic cardiomyopathy 4 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171130 SCV001333811 likely pathogenic Cardiomyopathy 2018-04-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002517307 SCV002950497 pathogenic Hypertrophic cardiomyopathy 2022-05-30 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 30297972). This sequence change creates a premature translational stop signal (p.Tyr1100*) 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). ClinVar contains an entry for this variant (Variation ID: 217485). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003144158 SCV003828499 likely pathogenic not provided 2022-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004649096 SCV005144251 pathogenic Cardiovascular phenotype 2024-04-04 criteria provided, single submitter clinical testing The p.Y1100* pathogenic mutation (also known as c.3300C>A), located in coding exon 30 of the MYBPC3 gene, results from a C to A substitution at nucleotide position 3300. This changes the amino acid from a tyrosine to a stop codon within coding exon 30. This variant has been detected in individuals with hypertrophic cardiomyopathy (Marsiglia JD et al. Am Heart J, 2013 Oct;166:775-82; Ho CY et al. Circulation, 2018 Oct;138:1387-1398). 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.

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