Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000795419 | SCV000934882 | pathogenic | not provided | 2021-10-15 | criteria provided, single submitter | clinical testing | This variant is also known as c.1687-1692delA. This premature translational stop signal has been observed in individual(s) with clinical features of Pendred syndrome (PMID: 19786220). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys564Asnfs*19) 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). ClinVar contains an entry for this variant (Variation ID: 642031). For these reasons, this variant has been classified as Pathogenic. |