ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.480del (p.Pro161fs)

dbSNP: rs1555123496
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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 RCV000621277 SCV000740209 pathogenic Cardiovascular phenotype 2017-08-14 criteria provided, single submitter clinical testing The c.480delG pathogenic mutation, located in coding exon 4 of the MYBPC3 gene, results from a deletion of one nucleotide at nucleotide position 480, causing a translational frameshift with a predicted alternate stop codon (p.P161Hfs*6). 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.
GeneDx RCV001008155 SCV001167916 pathogenic not provided 2023-12-26 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32344918)
Labcorp Genetics (formerly Invitae), Labcorp RCV003767819 SCV004642554 pathogenic Hypertrophic cardiomyopathy 2023-03-01 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 520371). This variant is also known as p.P161Hfs*5. This premature translational stop signal has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 32344918). This sequence change creates a premature translational stop signal (p.Pro161Hisfs*6) 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).

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