ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1958G>A (p.Arg653His)

gnomAD frequency: 0.00005  dbSNP: rs199697430
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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 RCV002015956 SCV002295583 uncertain significance not provided 2023-08-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 653 of the WFS1 protein (p.Arg653His). 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. ClinVar contains an entry for this variant (Variation ID: 1500838). This variant has not been reported in the literature in individuals affected with WFS1-related conditions. This variant is present in population databases (rs199697430, gnomAD 0.007%).
GeneDx RCV002015956 SCV002575611 uncertain significance not provided 2022-09-23 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
Fulgent Genetics, Fulgent Genetics RCV002479732 SCV002779215 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-03-15 criteria provided, single submitter clinical testing

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