ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.110G>C (p.Gly37Ala)

gnomAD frequency: 0.00001  dbSNP: rs1430796646
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000693552 SCV000821425 likely benign PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2023-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001771960 SCV001994397 uncertain significance not provided 2019-08-28 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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