ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.809-58TG[18]

dbSNP: rs59431308
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001194104 SCV001363385 likely benign not specified 2019-11-05 criteria provided, single submitter clinical testing Variant summary: ACTC1 c.809-22_809-13del10 alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 106928 control chromosomes (gnomAD), however it is located to a highly polymorphic sequence region, and therefore the reported population frequency for the variant might not be reliable. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.809-22_809-13del10 in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported in the literature. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely benign.
Invitae RCV002069245 SCV002426946 likely benign Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2024-01-28 criteria provided, single submitter clinical testing

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