ClinVar Miner

Submissions for variant NM_003336.4(UBE2A):c.283C>T (p.Arg95Cys)

dbSNP: rs2053457206
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital RCV001257330 SCV001319920 uncertain significance Syndromic X-linked intellectual disability Nascimento type 2020-03-27 criteria provided, single submitter research
GeneDx RCV002290608 SCV002578765 uncertain significance not provided 2022-04-09 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; This variant is associated with the following publications: (PMID: 35047860, 32415735)

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