ClinVar Miner

Submissions for variant NM_005614.4(RHEB):c.104A>G (p.Tyr35Cys)

dbSNP: rs1057519950
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001539212 SCV001756956 pathogenic not provided 2021-03-30 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); 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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