ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.686T>C (p.Met229Thr)

gnomAD frequency: 0.00001  dbSNP: rs774525063
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001965346 SCV002211412 uncertain significance not provided 2023-03-29 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: 1439615). This missense change has been observed in individual(s) with diabetes (PMID: 30663027). This variant is present in population databases (rs774525063, gnomAD 0.009%). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 229 of the WFS1 protein (p.Met229Thr).
Fulgent Genetics, Fulgent Genetics RCV002484702 SCV002791332 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

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