Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036512 | SCV000060167 | likely pathogenic | Rare genetic deafness | 2008-03-01 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000667963 | SCV000792495 | likely pathogenic | Pendred syndrome | 2017-06-26 | criteria provided, single submitter | clinical testing | |
Department of Otolaryngology – Head & Neck Surgery, |
RCV000667963 | SCV001571755 | pathogenic | Pendred syndrome | 2021-04-12 | criteria provided, single submitter | clinical testing | PVS1_Strong, PS1_Strong, PM2_Moderate, PP4_Supporting |
Genome- |
RCV000667963 | SCV002026732 | pathogenic | Pendred syndrome | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002513387 | SCV003241087 | pathogenic | not provided | 2023-06-23 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 7 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). Disruption of this splice site has been observed in individuals with Pendred syndrome (PMID: 23918157, 27214836). For these reasons, this variant has been classified as 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: 43571). |
Baylor Genetics | RCV003473273 | SCV004201864 | pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | 2023-09-17 | criteria provided, single submitter | clinical testing |