ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.913A>G (p.Met305Val)

gnomAD frequency: 0.00001  dbSNP: rs1555666484
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774678 SCV002003012 uncertain significance not provided 2020-02-14 criteria provided, single submitter clinical testing Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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