ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.654G>A (p.Lys218=)

dbSNP: rs2095898361
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Genomics Program, Sidra Medicine RCV001093568 SCV000999110 uncertain significance Hypertrophic cardiomyopathy criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001093568 SCV001492749 uncertain significance Hypertrophic cardiomyopathy 2023-07-17 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Variants that disrupt 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 create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 694565). This variant has not been reported in the literature in individuals affected with MYBPC3-related conditions. This sequence change affects codon 218 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 5, which is part of the consensus splice site for this exon.

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