Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001232944 | SCV001405518 | pathogenic | not provided | 2022-07-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu37*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with a SLC26A4-related condition (PMID: 17718863). ClinVar contains an entry for this variant (Variation ID: 627471). For these reasons, this variant has been classified as Pathogenic. |
Genetic Testing Center for Deafness, |
RCV000770855 | SCV000902358 | pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | 2019-02-26 | no assertion criteria provided | case-control |