Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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. |