ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.694G>A (p.Ala232Thr) (rs1131691829)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494136 SCV000582949 uncertain significance not provided 2017-04-14 criteria provided, single submitter clinical testing The A232T novel variant of uncertain significance in the ACTC1 gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A232T variant was not observed in large population cohorts (Lek et al., 2016, 1000 Genomes Consortium et al., 2015; Exome Variant Server), indicating it is not a common benign variant. The A232T 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. Additionally, this substitution occurs at a position that is conserved across species. Finally, in silico analysis predicts this variant is probably damaging to the protein structure/function. This variant has been identified as an assumed de novo event in one patient tested at GeneDx.However, additional evidence is needed to determine whether this variant is pathogenic or benign.

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