ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.469A>G (p.Met157Val)

dbSNP: rs2126749113
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV002227002 SCV002505921 likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2021-08-01 criteria provided, single submitter clinical testing
GeneDx RCV003328694 SCV004035404 uncertain significance not provided 2023-03-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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