ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1082C>T (p.Thr361Ile)

gnomAD frequency: 0.00001  dbSNP: rs781575919
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493450 SCV000582819 likely pathogenic not provided 2024-12-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26435059, 25895475, 21446023, 31692161, 36208030)
Labcorp Genetics (formerly Invitae), Labcorp RCV000493450 SCV002230676 pathogenic not provided 2024-11-30 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 361 of the WFS1 protein (p.Thr361Ile). This variant is present in population databases (rs781575919, gnomAD 0.02%). This missense change has been observed in individuals with Wolfram syndrome (PMID: 21446023, 25895475, 31692161). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 430094). 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 expected to disrupt WFS1 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005034035 SCV005660218 likely pathogenic Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2024-06-03 criteria provided, single submitter clinical testing

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