ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3438C>T (p.Gly1146=)

dbSNP: rs1197071459
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV003532576 SCV004358629 likely benign Cardiomyopathy 2023-12-05 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004011503 SCV004834021 uncertain significance Hypertrophic cardiomyopathy 2023-07-19 criteria provided, single submitter clinical testing This synonymous variant causes a nucleotide substitution but does not change the encoded amino acid at codon 1146 of the MYBPC3 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MYBPC3-related disorders in the literature. This variant has been identified in 1/236256 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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