ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.809-58TG[20]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV001194107 SCV001363388 benign not specified 2019-08-13 criteria provided, single submitter clinical testing Variant summary: ACTC1 c.809-18_809-13delTGTGTG 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.809-18_809-13delTGTGTG 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.

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