ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1309G>T (p.Gly437Cys)

dbSNP: rs147974629
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001969453 SCV002259614 uncertain significance not provided 2021-03-18 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. This variant has not been reported in the literature in individuals with WFS1-related conditions. This variant is present in population databases (rs147974629, ExAC 0.01%). This sequence change replaces glycine with cysteine at codon 437 of the WFS1 protein (p.Gly437Cys). The glycine residue is weakly conserved and there is a large physicochemical difference between glycine and cysteine.
Fulgent Genetics, Fulgent Genetics RCV002492193 SCV002786299 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-12-07 criteria provided, single submitter clinical testing

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