ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1076T>A (p.Ile359Asn)

dbSNP: rs2109125284
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752911 SCV002006350 uncertain significance not provided 2021-01-06 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002503250 SCV002806195 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-12-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV004564024 SCV005049885 uncertain significance Wolfram-like syndrome 2024-02-06 criteria provided, single submitter clinical testing

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