Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036507 | SCV000060162 | pathogenic | Rare genetic deafness | 2010-07-15 | criteria provided, single submitter | clinical testing | The 765+2T>C variant in SLC26A4 has not been reported in the literature. However , the 765+2T>C variant is predicted to cause abnormal splicing because the nucle otide substitution occurs in the invariant region of the splice consensus sequen ce. In summary, this variant meets our criteria to be classified as pathogenic. |
ARUP Laboratories, |
RCV000508481 | SCV000605146 | pathogenic | not specified | 2016-11-23 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001781352 | SCV002026699 | likely pathogenic | Pendred syndrome | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002513386 | SCV002930816 | likely pathogenic | not provided | 2022-09-22 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 6 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). 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: 43567). 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). |