ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2125G>A (p.Val709Met)

gnomAD frequency: 0.00002  dbSNP: rs761216725
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001933234 SCV002188851 uncertain significance not provided 2022-02-02 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 709 of the WFS1 protein (p.Val709Met). This variant is present in population databases (rs761216725, gnomAD 0.02%). This missense change has been observed in individual(s) with type 1 diabetes (PMID: 31264968). 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 expected to disrupt WFS1 protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002479407 SCV002791636 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-04-06 criteria provided, single submitter clinical testing

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