Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000795316 | SCV000934771 | likely pathogenic | not provided | 2023-03-27 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 641953). Disruption of this splice site has been observed in individual(s) with sensorineural deafness and enlarged vestibular aqueduct (PMID: 28964290). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 15 of the SLC26A4 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SLC26A4 are known to be pathogenic (PMID: 16283880, 25394566, 26252218, 26445815). |
| Fulgent Genetics, |
RCV002493455 | SCV002777126 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome | 2021-12-22 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003472344 | SCV004204230 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | 2023-01-12 | criteria provided, single submitter | clinical testing |