ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.20C>T (p.Pro7Leu)

gnomAD frequency: 0.00004  dbSNP: rs138165486
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175817 SCV000227377 uncertain significance not provided 2015-01-27 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000445453 SCV000537000 uncertain significance Monogenic diabetes 2015-07-30 criteria provided, single submitter research ACMG Criteria: PP3, BP4
GeneDx RCV000175817 SCV001813960 uncertain significance not provided 2019-07-24 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; 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; This variant is associated with the following publications: (PMID: 26435059)
Fulgent Genetics, Fulgent Genetics RCV002492751 SCV002779143 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-09-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000175817 SCV004284305 uncertain significance not provided 2023-01-14 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: 195256). This variant has not been reported in the literature in individuals affected with WFS1-related conditions. This variant is present in population databases (rs138165486, gnomAD 0.004%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 7 of the WFS1 protein (p.Pro7Leu).

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