ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.317T>A (p.Val106Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004776869 SCV005391584 uncertain significance not provided 2024-03-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has been observed in a patient with diabetes in optic atrophy who also harbored a splice variant in this gene; however phase of these two variants was not determined in this report (PMID: 36418577); This variant is associated with the following publications: (PMID: 36418577)

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