ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.616+6T>C

gnomAD frequency: 0.00003  dbSNP: rs574862389
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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 RCV001177786 SCV001342053 likely benign Cardiomyopathy 2019-08-02 criteria provided, single submitter clinical testing
Invitae RCV001236498 SCV001409223 uncertain significance Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2023-12-12 criteria provided, single submitter clinical testing This sequence change falls in intron 4 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. This variant is present in population databases (rs574862389, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with ACTC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 919548). 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 is not likely to affect RNA splicing. 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.

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