ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2083G>A (p.Gly695Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004539026 SCV004112459 uncertain significance WFS1-related disorder 2023-02-09 criteria provided, single submitter clinical testing The WFS1 c.2083G>A variant is predicted to result in the amino acid substitution p.Gly695Ser. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. An alternate substitution of this amino acid residue (p.Gly695Val) has been reported in individuals with autosomal recessive Wolfram syndrome (Inoue et al. 1998. PubMed ID: 9771706). Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Fulgent Genetics, Fulgent Genetics RCV005047566 SCV005667535 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2024-05-08 criteria provided, single submitter clinical testing

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