ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1468A>G (p.Thr490Ala)

dbSNP: rs1553878548
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000614284 SCV000712135 uncertain significance not specified 2016-06-02 criteria provided, single submitter clinical testing The p.Thr490Ala variant in WFS1 has not been previously reported in individuals with hearing loss or Wolfram syndrome, and it was absent from large population d atabases. Computational prediction tools and conservation analyses do not prov ide strong support for or against an impact to the protein. In summary, the clin ical significance of the p.Thr490Ala variant is uncertain.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003126843 SCV003801372 likely 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 rs1553878548 in Wolfram's syndrome yet.

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