ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3627G>A (p.Lys1209=) (rs1555120261)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513132 SCV000608587 likely pathogenic not provided 2017-04-30 criteria provided, single submitter clinical testing
Invitae RCV000549237 SCV000623600 uncertain significance Hypertrophic cardiomyopathy 2018-04-17 criteria provided, single submitter clinical testing This sequence change affects codon 1209 of the MYBPC3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MYBPC3 protein. This variant also falls at the last nucleotide of exon 32 of the MYBPC3 coding sequence, which is part of the consensus splice site for this exon. 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. ClinVar contains an entry for this variant (Variation ID: 444251). 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. 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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