ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.265G>A (p.Ala89Thr)

dbSNP: rs587782999
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000782038 SCV000920505 uncertain significance Neurodevelopmental disorder 2020-06-01 criteria provided, single submitter clinical testing
GeneDx RCV004760783 SCV005372521 uncertain significance not provided 2023-06-21 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; Has not been previously published as pathogenic or benign to our knowledge

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