Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000036487 | SCV000060142 | pathogenic | Rare genetic deafness | 2015-11-08 | criteria provided, single submitter | clinical testing | The 294_298delCACGC variant is predicted to cause a frameshift, which alters th e protein?s amino acid sequence beginning at position 99 and leads to a prematur e termination codon 81 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. It was also identified in a patient o f Asian descent with hearing loss and bilateral temporal bone abnormalities and a second likely pathogenic variant c.706C>G (p.Leu236Val). |
| Revvity Omics, |
RCV001781351 | SCV002020681 | pathogenic | not provided | 2019-08-27 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001781351 | SCV002117576 | pathogenic | not provided | 2023-08-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 43551). This variant has not been reported in the literature in individuals affected with SLC26A4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr99Alafs*81) 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). |
| Baylor Genetics | RCV003473270 | SCV004201925 | pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | 2023-05-29 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000412115 | SCV000487271 | likely pathogenic | Pendred syndrome | 2016-11-04 | no assertion criteria provided | clinical testing |