ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1705G>A (p.Ala569Thr)

gnomAD frequency: 0.00001  dbSNP: rs876658118
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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 RCV000218792 SCV000272913 uncertain significance not specified 2015-12-04 criteria provided, single submitter clinical testing The p.Ala569Thr variant in WFS1 has not been previously identified in individual s with hearing loss or Wolfram syndrome and was absent from large population stu dies. An different amino acid change at the same position (p.Ala569Val) was ide ntified in an individual with clinical features consistent with early onset Wolf ram syndrome (Chaussenot 2015); however, a second variant was not identified in that individual. Computational prediction tools and conservation analysis of the p.Ala569Thr variant do not provide strong support for or against an impact to t he protein. In summary, the clinical significance of the p.Ala569Thr variant is uncertain.
Fulgent Genetics, Fulgent Genetics RCV002485409 SCV002785417 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-12-22 criteria provided, single submitter clinical testing

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