ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2480C>T (p.Thr827Ile)

dbSNP: rs1730968164
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001195948 SCV001366372 uncertain significance Type 2 diabetes mellitus 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP2,PP3.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003147594 SCV003804400 uncertain risk allele 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 rs1730968164 in Wolfram's syndrome yet.

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