ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.950C>G (p.Thr317Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002467302 SCV002762523 uncertain significance not provided 2022-06-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004534106 SCV004116334 uncertain significance WFS1-related disorder 2022-08-30 criteria provided, single submitter clinical testing The WFS1 c.950C>G variant is predicted to result in the amino acid substitution p.Thr317Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-6302472-C-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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