Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169595 | SCV000221105 | likely pathogenic | Pendred syndrome | 2015-01-30 | criteria provided, single submitter | literature only | |
Invitae | RCV001041501 | SCV001205122 | pathogenic | not provided | 2023-04-14 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 3 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). 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: 189167). Disruption of this splice site has been observed in individual(s) with SLC26A4 related conditions (PMID: 19287372, 28281779). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs746238617, gnomAD 0.0009%). |
Genome- |
RCV000169595 | SCV002026587 | likely pathogenic | Pendred syndrome | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001041501 | SCV002562372 | pathogenic | not provided | 2022-08-05 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 26186295, 28281779, 19287372) |
Baylor Genetics | RCV003474918 | SCV004204213 | pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | 2023-02-17 | criteria provided, single submitter | clinical testing |