ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2413+3_2413+5del

dbSNP: rs1060501482
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475048 SCV000546458 uncertain significance Hypertrophic cardiomyopathy 2016-10-18 criteria provided, single submitter clinical testing This sequence change falls in intron 24 of the MYBPC3 gene. It does not directly change the encoded amino acid sequence of the MYBPC3 protein, but it affects  nucleotides within the consensus splice site of the intron. In summary, this variant is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of nucleotide changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant is not present in population databases (ExAC no frequency).

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