ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.506-1G>A

dbSNP: rs397516056
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628985 SCV000749895 pathogenic Hypertrophic cardiomyopathy 2022-12-23 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: 525018). Disruption of this splice site has been observed in individuals with hypertrophic cardiomyopathy (PMID: 25078086, 27532257). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 4 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).
Clinical Genetics Laboratory, Region Ostergotland RCV002251746 SCV002522543 pathogenic Hypertrophic cardiomyopathy 4 2020-01-24 criteria provided, single submitter clinical testing PVS1, PM2, PP5
deCODE genetics, Amgen RCV002251746 SCV004022232 likely pathogenic Hypertrophic cardiomyopathy 4 2023-07-21 no assertion criteria provided research The variant NM_000256.3:c.506-1G>A (chr11:47349923) in MYBPC3 was detected in 15 heterozygotes out of 58K WGS Icelanders (MAF= 0,013%). This variant has been reported in ClinVar previously as pathogenic. Based on ACMG criteria (PVS1, PP5) this variant classifies as likely pathogenic.

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