ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2378G>C (p.Arg793Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004702108 SCV005201867 uncertain significance not provided 2023-08-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Reported in a compound heterozygous state with a second WFS1 variant in a patient with Wolfram syndrome (Colosimo et al., 2003); This variant is associated with the following publications: (PMID: 34258273, 12955714, 12754709)

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