ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2432_2433delinsGA (p.Lys811Arg)

dbSNP: rs2109127604
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001768421 SCV002009049 uncertain significance not provided 2024-12-17 criteria provided, single submitter clinical testing In silico analysis supports that this in-frame substitution of 1 amino acid does not alter protein structure/function; Has not been previously published as pathogenic or benign in association with a WFS1-related disorder to our knowledge; This variant is associated with the following publications: (PMID: Moscona-Nissan_medRxiv_2024)
Labcorp Genetics (formerly Invitae), Labcorp RCV001768421 SCV002212145 uncertain significance not provided 2024-11-27 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 811 of the WFS1 protein (p.Lys811Arg). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 1318797). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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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