ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.809-58TG[17] (rs59431308)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000296187 SCV000390688 uncertain significance Familial restrictive cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351039 SCV000390689 uncertain significance Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406995 SCV000390690 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311286 SCV000390691 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347484 SCV000390692 uncertain significance Atrial septal defect 2016-06-14 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852704 SCV000995418 likely benign Dilated cardiomyopathy 2019-06-11 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV001194108 SCV001363389 benign not specified 2019-08-13 criteria provided, single submitter clinical testing Variant summary: ACTC1 c.809-24_809-13delTGTGTGTGTGTG 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 was absent in 106928 control chromosomes (gnomAD). However, the variant is located in a highly polymorphic region within a run of TG dinucleotide tandem repeats. In addition, surrounding variants with variations of TG repeats (expansions and deletions) have been classified as benign. Therefore, suggesting the region is tolerable to expansions and deletions of this dinucleotide sequence. To our knowledge, no occurrence of c.809-24_809-13del12 in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submission (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as benign.

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