Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001381759 | SCV001580257 | pathogenic | not provided | 2020-10-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg714Glufs*7) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SLC26A4 are known to be pathogenic (PMID: 16283880, 25394566, 26252218, 26445815). This variant has not been reported in the literature in individuals with SLC26A4-related conditions. This variant is not present in population databases (ExAC no frequency). |