ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1223+1G>T

dbSNP: rs730880639
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067656 SCV001232725 pathogenic Hypertrophic cardiomyopathy 2022-11-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 861189). Disruption of this splice site has been observed in individuals with hypertrophic cardiomyopathy (PMID: 18258667, 20624503; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 13 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).
Institute of Human Genetics, University of Leipzig Medical Center RCV001706718 SCV001934562 pathogenic Left ventricular noncompaction 10 2020-10-05 criteria provided, single submitter clinical testing

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