ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3182_3190+4del

dbSNP: rs730880718
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158482 SCV000208417 pathogenic Cardiomyopathy 2012-02-07 criteria provided, single submitter clinical testing A deletion of 13 nucleotides was identified in exon 29 of the MYBPC3 gene. The normal sequence with the bases that are deleted in braces is: CTGC{AGGTTGTTGgtgc}gtgg, with capital letters indicating exonic sequence and lower case letters indicating intronic sequence. This mutation is denoted c.3182_3190+4del at the cDNA level. The c.3182_3190+4del mutation in the MYBPC3 gene has not been reported previously, however this mutation results in a deletion of 13 nucleotides that eliminates the splice donor site of intron 29. This mutation is predicted to lead to an abnormal protein product. The variant is found in HCM panel(s).
Invitae RCV001045530 SCV001209389 likely pathogenic Hypertrophic cardiomyopathy 2021-10-17 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 28771489). This variant is not present in population databases (ExAC no frequency). This variant results in the deletion of part of exon 29 of the MYBPC3 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MYBPC3 are known to be pathogenic (PMID: 19574547). ClinVar contains an entry for this variant (Variation ID: 181154). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.

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