ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1543TTC[1] (p.Phe516del)

dbSNP: rs777904670
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001727285 SCV001962562 pathogenic not provided 2021-07-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503178 SCV002782249 likely pathogenic Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-05-14 criteria provided, single submitter clinical testing
GeneDx RCV001727285 SCV003930771 likely pathogenic not provided 2022-12-08 criteria provided, single submitter clinical testing In-frame deletion of one amino acid in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); Also known as c.1246delTTC, c.1716_1718delTTC, p.del516Phe; This variant is associated with the following publications: (PMID: 34416374, 20738327, 12754709, 31600780, 24497219)

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