ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.998C>G (p.Pro333Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002510045 SCV002818760 uncertain significance not provided 2022-07-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD); Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004548306 SCV004109609 likely pathogenic ACTG1-related disorder 2023-10-13 criteria provided, single submitter clinical testing The ACTG1 c.998C>G variant is predicted to result in the amino acid substitution p.Pro333Arg. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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