ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.*1G>T

dbSNP: rs1226132498
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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 RCV001188574 SCV001355647 uncertain significance Cardiomyopathy 2019-12-18 criteria provided, single submitter clinical testing This variant is located in the 3' untranslated region of the ACTC1 gene. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 1/251472 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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005405534 SCV006070472 uncertain significance Cardiovascular phenotype 2025-04-09 criteria provided, single submitter clinical testing PM2

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