ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.809-58TG[15]

dbSNP: rs59431308
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Total submissions: 3
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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 RCV001194109 SCV001363391 benign not specified 2019-08-13 criteria provided, single submitter clinical testing Variant summary: ACTC1 c.809-28_809-13delTGTGTGTGTGTGTGTG alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.14 in 24922 control chromosomes in the gnomAD database, including 256 homozygotes. The observed variant frequency is approximately 5553-folds over the estimated maximal expected allele frequency for a pathogenic variant in ACTC1 causing Cardiomyopathy phenotype (2.5e-05), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.809-28_809-13del16 in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. 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 benign.
GeneDx RCV001673034 SCV001891190 benign not provided 2019-08-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002069248 SCV002351273 likely benign Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2024-02-01 criteria provided, single submitter clinical testing

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