ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.504T>A (p.Tyr168Ter)

dbSNP: rs2140430970
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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 RCV001805383 SCV002052581 uncertain significance Cardiomyopathy 2021-03-18 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 4 of the ACTC1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, 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). Clinical relevance of loss-of-function truncation and splice variants in the ACTC1 gene is not clearly established. 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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