ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.172G>A (p.Ala58Thr)

dbSNP: rs1057524887
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000445526 SCV000537001 uncertain significance Monogenic diabetes 2016-10-11 criteria provided, single submitter research ACMG Criteria: PM2, PP3, BP4
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002509070 SCV002769819 benign Wolfram syndrome 1 criteria provided, single submitter research Potent mutations in WFS1 gene are associated with Wolfram's syndrome, an autosomal recessive condition, which cause diabetes mellitus, diabetes insipidus, deafness and optic atrophy. However no sufficient evidence is found to ascertain the role of this particular variant rs1057524887 in Wolfram's syndrome yet.
Fulgent Genetics, Fulgent Genetics RCV002488989 SCV002803229 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-11-02 criteria provided, single submitter clinical testing

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