ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.505+6T>C

gnomAD frequency: 0.00001  dbSNP: rs397516055
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000774873 SCV000908892 uncertain significance Cardiomyopathy 2023-08-16 criteria provided, single submitter clinical testing This variant causes a T to C nucleotide substitution at the +6 position of intron 4 of the MYBPC3 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. 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 3/167946 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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