ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2290C>G (p.Pro764Ala)

gnomAD frequency: 0.00003  dbSNP: rs377102310
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001757328 SCV002007469 uncertain significance not provided 2019-07-09 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002477994 SCV002782156 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-12-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001757328 SCV003823765 uncertain significance not provided 2021-08-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001757328 SCV004344811 uncertain significance not provided 2023-04-21 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. ClinVar contains an entry for this variant (Variation ID: 1315881). This variant has not been reported in the literature in individuals affected with WFS1-related conditions. This variant is present in population databases (rs377102310, gnomAD 0.01%). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 764 of the WFS1 protein (p.Pro764Ala).

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