ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2101A>T (p.Thr701Ser)

dbSNP: rs1578611960
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002909007 SCV003253572 uncertain significance not provided 2024-02-24 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 701 of the WFS1 protein (p.Thr701Ser). This variant is not present in population databases (gnomAD no frequency). 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: 2045929). 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.
New York Genome Center RCV003228102 SCV003925224 uncertain significance Wolfram syndrome 1; Type 2 diabetes mellitus 2022-07-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738626 SCV005363551 uncertain significance WFS1-related disorder 2024-06-21 no assertion criteria provided clinical testing The WFS1 c.2101A>T variant is predicted to result in the amino acid substitution p.Thr701Ser. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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