ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.494T>C (p.Ile165Thr)

dbSNP: rs2143778877
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002244432 SCV002513071 uncertain significance not provided 2024-02-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); 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
Institute of Rare Diseases, West China Hospital, Sichuan University RCV005052853 SCV005686798 likely pathogenic Autosomal dominant nonsyndromic hearing loss 20 2025-01-09 criteria provided, single submitter research PS2;PM2_Supporting;PP3

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