ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1167T>G (p.Asp389Glu)

dbSNP: rs201282601
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199078 SCV000252524 uncertain significance not provided 2024-04-19 criteria provided, single submitter clinical testing Reported in association with optic neuropathy in published literature (PMID: 33841295); patient clinical information not provided; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 33841295, 26435059)
Fulgent Genetics, Fulgent Genetics RCV000765779 SCV000897168 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-05-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000199078 SCV001500779 uncertain significance not provided 2021-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000199078 SCV001512387 uncertain significance not provided 2023-11-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 389 of the WFS1 protein (p.Asp389Glu). This variant is present in population databases (rs201282601, gnomAD 0.04%). 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: 215385). 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 with a negative predictive value of 95%. 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.
Baylor Genetics RCV001329514 SCV001520972 uncertain significance Autosomal dominant nonsyndromic hearing loss 6 2019-06-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV000199078 SCV003823759 uncertain significance not provided 2019-02-11 criteria provided, single submitter clinical testing

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