ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1319C>T (p.Thr440Ile)

gnomAD frequency: 0.00001  dbSNP: rs775039116
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002040082 SCV002113796 uncertain significance not provided 2022-08-09 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1352971). This variant has not been reported in the literature in individuals affected with WFS1-related conditions. This variant is present in population databases (rs775039116, gnomAD 0.007%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 440 of the WFS1 protein (p.Thr440Ile).
Fulgent Genetics, Fulgent Genetics RCV002503375 SCV002791031 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-02-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002040082 SCV003823764 uncertain significance not provided 2020-06-19 criteria provided, single submitter clinical testing

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