ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1684G>A (p.Gly562Ser)

gnomAD frequency: 0.00005  dbSNP: rs753237278
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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 RCV001930759 SCV002193617 uncertain significance not provided 2022-09-23 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. ClinVar contains an entry for this variant (Variation ID: 1415009). This variant has not been reported in the literature in individuals affected with WFS1-related conditions. This variant is present in population databases (rs753237278, gnomAD 0.03%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 562 of the WFS1 protein (p.Gly562Ser).
Fulgent Genetics, Fulgent Genetics RCV002491877 SCV002781848 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002556405 SCV003643158 uncertain significance Inborn genetic diseases 2022-10-21 criteria provided, single submitter clinical testing Unlikely to be causative of autosomal dominant WFS1-related Wolfram syndrome Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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