ClinVar Miner

Submissions for variant NM_006793.5(PRDX3):c.425C>G (p.Ala142Gly)

gnomAD frequency: 0.00007  dbSNP: rs202061531
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004801180 SCV005421467 uncertain significance not provided 2024-05-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33889951, 35766882)
OMIM RCV002248453 SCV002520560 pathogenic Spinocerebellar ataxia, autosomal recessive 32 2022-05-16 no assertion criteria provided literature only

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