Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001335321 | SCV001528448 | pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | 2018-01-18 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported in patients with Pendred syndrome [PMID 21416585, 24224479] |
Invitae | RCV001389807 | SCV001591288 | pathogenic | not provided | 2023-10-15 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 14 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). This variant is present in population databases (rs758823761, gnomAD 0.0009%). Disruption of this splice site has been observed in individuals with Pendred syndrome (PMID: 21416585, 24224479). It has also been observed to segregate with disease in related individuals. This variant is also known as IVS14-2A>G. ClinVar contains an entry for this variant (Variation ID: 1033029). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV001389807 | SCV001780309 | pathogenic | not provided | 2021-06-03 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in an in-frame deletion of a critical region; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 25394566, 21704276, 21416585, 24224479, 25525159) |
Otorhinolaryngology Lab - |
RCV001335321 | SCV001792215 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | criteria provided, single submitter | research | in compound heterozygosis with the c.481T>A variant in a subject with bilateral non-syndromic sensorineural prelingual hearing loss (familial) | |
Genome- |
RCV001335321 | SCV002026953 | pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001389807 | SCV004225733 | pathogenic | not provided | 2022-05-10 | criteria provided, single submitter | clinical testing | PP1, PP3, PM2, PM3_strong, PVS1_moderate |
Natera, |
RCV001830394 | SCV002080003 | pathogenic | Pendred syndrome | 2020-07-22 | no assertion criteria provided | clinical testing |