ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3G>C (p.Met1Ile)

dbSNP: rs397516045
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035622 SCV000059273 uncertain significance not specified 2019-11-20 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
GeneDx RCV000578781 SCV000680825 likely pathogenic not provided 2023-02-21 criteria provided, single submitter clinical testing Reported in association with cardiomyopathy (Alfares et al., 2015); Initiation codon variant in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27532257, 28679633, 30297972, 25611685, 29524613)
Invitae RCV001245972 SCV001419299 uncertain significance Hypertrophic cardiomyopathy 2021-08-27 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the MYBPC3 mRNA. The next in-frame methionine is located at codon 103. This variant is not present in population databases (ExAC no frequency). Disruption of the initiator codon has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 25611685, 27532257, 29524613). ClinVar contains an entry for this variant (Variation ID: 42747). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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