ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1480G>A (p.Gly494Ser)

gnomAD frequency: 0.00004  dbSNP: rs760692398
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001919107 SCV002186813 uncertain significance not provided 2024-05-07 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 494 of the WFS1 protein (p.Gly494Ser). This variant is present in population databases (rs760692398, gnomAD 0.04%). This missense change has been observed in individual(s) with deafness (PMID: 28271504). ClinVar contains an entry for this variant (Variation ID: 1412493). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on WFS1 protein function. 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 RCV002490271 SCV002780048 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2024-03-28 criteria provided, single submitter clinical testing
GeneDx RCV001919107 SCV004022789 uncertain significance not provided 2023-05-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28271504)

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