ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2737+4_2737+7del

dbSNP: rs1555120911
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619490 SCV000740139 uncertain significance Cardiovascular phenotype 2019-08-27 criteria provided, single submitter clinical testing The c.2737+4_2737+7delAGTG intronic variant is located 4 nucleotides after exon 26 in the MYBPC3 gene. This variant results from a deletion of 4 nucleotides at positions c.2737+4 to c.2737+7. This alteration has been reported in a single patient from a hypertrophic cardiomyopathy cohort, but clinical details were limited (Waldmüller S et al. Eur. J. Heart Fail. 2011;13:1185-92). These nucleotide positions range from highly to well conserved in available vertebrate species. In addition, this alteration is predicted to abolish the native splice donor site by the BDGP in silico tool and to weaken the efficiency of the native splice donor site by the ESEfinder in silico tool; however direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001860414 SCV002127605 uncertain significance Hypertrophic cardiomyopathy 2021-10-15 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 520349). 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 disrupt the consensus splice site. 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. This sequence change falls in intron 26 of the MYBPC3 gene. It does not directly change the encoded amino acid sequence of the MYBPC3 protein. It affects a nucleotide within the consensus splice site. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 21750094).

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