ClinVar Miner

Submissions for variant NM_005499.3(UBA2):c.1834A>T (p.Arg612Trp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV004566604 SCV005049794 uncertain significance ACCES syndrome 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV004780736 SCV005391922 uncertain significance not provided 2024-04-19 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; Has not been previously published as pathogenic or benign to our knowledge
Undiagnosed Diseases Network, NIH RCV004566604 SCV005420988 likely pathogenic ACCES syndrome 2024-10-04 criteria provided, single submitter clinical testing Missense variant in a gene where missense variants have been shown to cause disruption of function; identified in a patient with clinical features consistent with UBA2-related syndrome.

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