ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.330C>A (p.Tyr110Ter)

dbSNP: rs1553876668
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626276 SCV000746933 pathogenic Type 2 diabetes mellitus 2017-12-18 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002509088 SCV002769838 pathogenic 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 rs1553876668 in Wolfram's syndrome yet.

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