ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.929C>T (p.Ala310Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005038625 SCV005664717 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2024-01-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004539217 SCV004713008 uncertain significance WFS1-related disorder 2024-01-05 no assertion criteria provided clinical testing The WFS1 c.929C>T variant is predicted to result in the amino acid substitution p.Ala310Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0054% of alleles in individuals of East Asian descent in gnomAD. 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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