ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1385A>C (p.Glu462Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003328916 SCV004035549 uncertain significance not provided 2023-09-07 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; Has not been previously published as pathogenic or benign to our knowledge; Different missense variant at same codon p.(E462G) reported in a patient with cataracts and shown to co-segregate with autosomal dominant cataracts in multi-generational family (Berry et al., 2013)
Fulgent Genetics, Fulgent Genetics RCV005036745 SCV005660242 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2024-02-09 criteria provided, single submitter clinical testing

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