ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.22A>G (p.Thr8Ala) (rs730880390)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000157775 SCV000207705 uncertain significance not provided 2017-06-08 criteria provided, single submitter clinical testing The T8A variant of uncertain significance in the ACTC1 gene has not been published as pathogenic or benign to our knowledge. This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution also occurs at a position that is conserved across species. In silico analysis predicts T8A is probably damaging to the protein structure/function. Moreover, T8A is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In addition, T8A has been identified in another individual referred for HCM testing at GeneDx; however, this individual was found to carry additional cardiogenetics variants, and segregation data is absent due to insufficient participation by informative family members. Therefore, additional evidence is needed to determine whether this variant is pathogenic or benign.

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