ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1817T>G (p.Val606Gly)

gnomAD frequency: 0.00011  dbSNP: rs756252214
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001300722 SCV001489871 uncertain significance not provided 2024-09-10 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 606 of the WFS1 protein (p.Val606Gly). This variant is present in population databases (rs756252214, gnomAD 0.05%). 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: 1004079). Invitae Evidence 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 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.
GeneDx RCV001300722 SCV001791304 uncertain significance not provided 2021-05-13 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 as pathogenic or benign to our knowledge
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003127770 SCV003802906 uncertain risk allele Wolfram syndrome 1 criteria provided, single submitter research Potent mutations in WFS1 gene are associated with Wolfram's syndrome, an autosomal recessive condition, which cause diabetes mellitus, diabetes insipidus, deafness and optic atrophy. However no sufficient evidence is found to ascertain the role of this particular variant rs756252214 in Wolfram's syndrome yet.
Fulgent Genetics, Fulgent Genetics RCV005040144 SCV005665345 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2024-05-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531083 SCV004119109 uncertain significance WFS1-related disorder 2024-01-08 no assertion criteria provided clinical testing The WFS1 c.1817T>G variant is predicted to result in the amino acid substitution p.Val606Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.040% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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