ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.667C>A (p.Leu223Met)

dbSNP: rs1057524889
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Total submissions: 2
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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 RCV000445527 SCV000537007 uncertain significance Monogenic diabetes 2016-10-07 criteria provided, single submitter research ACMG Criteria: PM2, PP3, BP4
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002509073 SCV002773862 uncertain significance 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 rs1057524889 in Wolfram's syndrome yet.

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