ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1624+3G>C

dbSNP: rs730880690
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158431 SCV000208366 likely pathogenic not provided 2011-11-15 criteria provided, single submitter clinical testing This variant is denoted IVS17+3 G>C or c.1624+3 G>C. The c.1624+3 G>C (IVS17+3 G>C) splicing variant in the MYBPC3 gene has not been reported previously as a disease-causing mutation or as a benign polymorphism, to our knowledge. Three in silico splice analysis programs predict c.1624+3 G>C destroys or damages the natural donor site of intron 17, which is expected to cause abnormal gene splicing. This may lead to either an abnormal message, which is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Other splice site mutations in the MYBPC3 gene have been reported in association with LQTS. The variant is found in DCM panel(s).
Invitae RCV001215622 SCV001387376 uncertain significance Hypertrophic cardiomyopathy 2019-04-20 criteria provided, single submitter clinical testing Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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. This sequence change falls in intron 17 of the MYBPC3 gene. It does not directly change the encoded amino acid sequence of the MYBPC3 protein, but it affects a nucleotide within the consensus splice site of the intron. 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 conditions. ClinVar contains an entry for this variant (Variation ID: 181119). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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