Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668990 | SCV000793679 | pathogenic | Pendred syndrome | 2017-08-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001868228 | SCV002245965 | pathogenic | not provided | 2020-12-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with Pendred syndrome (PMID: 9618166). ClinVar contains an entry for this variant (Variation ID: 553520). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln383Argfs*49) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC26A4 are known to be pathogenic (PMID: 16283880, 25394566, 26252218, 26445815). |