ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2602C>T (p.Arg868Cys)

gnomAD frequency: 0.00006  dbSNP: rs148611943
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001575905 SCV001802996 uncertain significance not provided 2023-01-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published in association with disease to our knowledge; This variant is associated with the following publications: (PMID: 26435059)
Invitae RCV001575905 SCV002311474 uncertain significance not provided 2023-12-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 868 of the WFS1 protein (p.Arg868Cys). This variant is present in population databases (rs148611943, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with WFS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1207795). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt WFS1 protein function with a positive predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002488403 SCV002785439 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-04-07 criteria provided, single submitter clinical testing

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