ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2164A>G (p.Met722Val)

gnomAD frequency: 0.00003  dbSNP: rs778958194
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001853209 SCV000252497 uncertain significance not provided 2022-04-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001853209 SCV002196829 uncertain significance not provided 2023-02-13 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. 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 not expected to disrupt WFS1 protein function. This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 722 of the WFS1 protein (p.Met722Val). This variant is present in population databases (rs778958194, gnomAD 0.02%). 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: 215368).
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003126586 SCV003802880 uncertain significance 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 rs778958194 in Wolfram's syndrome yet.

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