ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.905+1G>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694634 SCV000823089 likely pathogenic Hypertrophic cardiomyopathy 2018-06-12 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 9 of the MYBPC3 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MYBPC3-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MYBPC3 are known to be pathogenic (PMID: 19574547). 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.
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine RCV000709743 SCV000840017 likely pathogenic Familial hypertrophic cardiomyopathy 4 2018-04-25 criteria provided, single submitter clinical testing This c.905+1G>T variant in the MYBP3 gene has not been reported previously nor observed in general population according to gnomad database. This variant is predicted, through disruption of normal mRNA splicing, to cause loss of function of normal protein, which is a suggested disease mechanism for this gene. Based on current evidences, this c.905+1G>T variant in the MYBP3 gene is classified as likely pathogenic.

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