ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1620G>T (p.Trp540Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002468534 SCV002764544 uncertain significance Wolfram syndrome 1; Wolfram-like syndrome 2020-11-02 criteria provided, single submitter clinical testing The c.1620G>T, p.Trp540Cys missense variant identified in WFS1 has not been reported in the literature. This variant is not reported in gnomAD database, indicating this is a rare allele. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function [PMID: 27268795]. Two allelic variants with different amino acid changes (c.1618T>G, p.Trp540Gly and c.1619G>A, p.Trp540Ter) have been reported in the patients with Wolfram syndrome [PMID: 31391115, 21564155]. Based on the available evidence, the variant c.1620G>T, p.Trp540Cys in the WFS1 gene is classified as a Variant of Uncertain Significance.

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