ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1225A>T (p.Lys409Ter)

dbSNP: rs1114167419
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004649177 SCV005144252 pathogenic Cardiovascular phenotype 2024-04-03 criteria provided, single submitter clinical testing The p.K409* pathogenic mutation (also known as c.1225A>T), located in coding exon 14 of the MYBPC3 gene, results from an A to T substitution at nucleotide position 1225. This changes the amino acid from a lysine to a stop codon within coding exon 14. 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.
Institute of Human Genetics, University of Goettingen RCV000490813 SCV000574704 likely pathogenic Hypertrophic cardiomyopathy 4 2017-04-25 no assertion criteria provided clinical testing CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC

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