ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3224C>T (p.Thr1075Ile)

dbSNP: rs150786409
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000845355 SCV000987408 uncertain significance not provided criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001524535 SCV001734423 uncertain significance Cardiomyopathy 2020-12-21 criteria provided, single submitter clinical testing This missense variant replaces threonine with isoleucine at codon 1075 of the MYBPC3 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified 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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