Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001386693 | SCV001587030 | pathogenic | not provided | 2020-05-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser448*) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Loss-of-function variants in SLC26A4 are known to be pathogenic (PMID: 16283880, 25394566, 26252218, 26445815). This variant has been observed in individual(s) with SLC26A4-related conditions (PMID: 16086271, 25372295, 30554688). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV001386693 | SCV002577256 | pathogenic | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay 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, 16086271, 30554688, 34335733, 30275481, 21961810, 34170635, 33597575, 25372295) |
Baylor Genetics | RCV003473969 | SCV004201899 | pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV005038199 | SCV005673630 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome | 2024-06-22 | criteria provided, single submitter | clinical testing |