ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2371C>T (p.Arg791Cys)

gnomAD frequency: 0.00002  dbSNP: rs200528166
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329515 SCV001520973 uncertain significance Autosomal dominant nonsyndromic hearing loss 6 2019-05-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001562691 SCV001785496 uncertain significance not provided 2021-04-01 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published in association with disease to our knowledge; This variant is associated with the following publications: (PMID: 26435059)
Invitae RCV001562691 SCV002135356 uncertain significance not provided 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 791 of the WFS1 protein (p.Arg791Cys). This variant is present in population databases (rs200528166, 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: 1028468). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV002486328 SCV002782758 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-05-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001562691 SCV005190024 uncertain significance not provided criteria provided, single submitter not provided

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