ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1927G>T (p.Glu643Ter)

dbSNP: rs1555121871
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619974 SCV000740171 pathogenic Cardiovascular phenotype 2017-06-07 criteria provided, single submitter clinical testing The p.E643* pathogenic mutation (also known as c.1927G>T), located in coding exon 20 of the MYBPC3 gene, results from a G to T substitution at nucleotide position 1927. This changes the amino acid from a glutamic acid to a stop codon within coding exon 20. 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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