ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.-1G>A

dbSNP: rs748380799
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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 RCV001192324 SCV001360354 uncertain significance Cardiomyopathy 2022-12-01 criteria provided, single submitter clinical testing This variant changes a single nucleotide in the 5' untranslated region of the ACTC1 gene. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with ACTC1-related disorders in the literature. This variant has been identified in 1/250254 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.
All of Us Research Program, National Institutes of Health RCV004010598 SCV004819216 uncertain significance Hypertrophic cardiomyopathy 2023-01-10 criteria provided, single submitter clinical testing This variant changes a single nucleotide in the 5' untranslated region of the ACTC1 gene. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with ACTC1-related disorders in the literature. This variant has been identified in 1/250254 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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