Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000611912 | SCV000712229 | uncertain significance | not specified | 2016-06-21 | criteria provided, single submitter | clinical testing | The p.Thr432Ile variant in KCNQ1 has not been previously reported in individuals with hearing loss. This variant has been identified in 2/16204 South Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs751644427); however, its frequency is not high enough to rule out a p athogenic role. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein, though this information is not pr edictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Thr432Ile variant is uncertain. |