ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2141A>C (p.Asn714Thr)

dbSNP: rs397517196
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Total submissions: 1
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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 RCV000038651 SCV000062329 pathogenic Rare genetic deafness 2013-08-15 criteria provided, single submitter clinical testing The Asn714Thr variant in WFS1 has been reported in one Indian individual with he aring loss and segregated in 5 affected and 4 unaffected relatives (combined unp ublished data from our laboratory and a second laboratory). Frequency data from large population studies is insufficient. Computational analyses (biochemical am ino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) are consisten t with pathogenicity. In summary, this variant meets criteria for classification as pathogenic.

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