ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.401C>T (p.Ala134Val)

gnomAD frequency: 0.00002  dbSNP: rs746010848
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001647248 SCV001519261 uncertain significance Spastic ataxia 2021-01-04 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV002493715 SCV002786653 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-02-11 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV002493715 SCV005417248 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome criteria provided, single submitter clinical testing PM2_Supporting+PP3_Moderate
Labcorp Genetics (formerly Invitae), Labcorp RCV005094405 SCV005847736 uncertain significance not provided 2024-11-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 134 of the WFS1 protein (p.Ala134Val). This variant is present in population databases (rs746010848, gnomAD 0.001%). This missense change has been observed in individual(s) with spinocerebellar ataxia and type 2 diabetes (PMID: 34445196, 37277527). ClinVar contains an entry for this variant (Variation ID: 1027526). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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.

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