ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1439A>G (p.Tyr480Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004529764 SCV004107386 uncertain significance WFS1-related disorder 2023-07-16 criteria provided, single submitter clinical testing The WFS1 c.1439A>G variant is predicted to result in the amino acid substitution p.Tyr480Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-6302961-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Neuberg Centre For Genomic Medicine, NCGM RCV003445235 SCV004171874 uncertain significance Wolfram syndrome 1 criteria provided, single submitter clinical testing

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