ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.454+5G>C

gnomAD frequency: 0.00001  dbSNP: rs756249146
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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 RCV001525957 SCV001736180 uncertain significance Cardiomyopathy 2020-10-06 criteria provided, single submitter clinical testing This variant causes a G to C nucleotide substitution at the +5 position of intron 3 of the ACTC1 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing, however, this prediction has not been confirmed in published RNA studies. 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 been identified in 2/251208 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003771613 SCV004574111 uncertain significance Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2023-04-20 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1172249). This variant has not been reported in the literature in individuals affected with ACTC1-related conditions. This variant is present in population databases (rs756249146, gnomAD 0.006%). This sequence change falls in intron 3 of the ACTC1 gene. It does not directly change the encoded amino acid sequence of the ACTC1 protein. It affects a nucleotide within the consensus splice site.

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