ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.1880A>G (p.Glu627Gly)

gnomAD frequency: 0.00002  dbSNP: rs779007436
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816746 SCV000957269 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-09-28 criteria provided, single submitter clinical testing
GeneDx RCV001766719 SCV002008242 uncertain significance not provided 2019-10-11 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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