Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000695799 | SCV000824320 | pathogenic | H syndrome | 2017-07-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SLC29A3 are known to be pathogenic (PMID: 19336477, 20595384, 23406517, 25963354). 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. This variant has not been reported in the literature in individuals with SLC29A3-related disease. This variant is present in population databases (rs776960135, ExAC 0.009%). This sequence change creates a premature translational stop signal (p.Trp160*) in the SLC29A3 gene. It is expected to result in an absent or disrupted protein product. |
Ce |
RCV001726306 | SCV001961228 | likely pathogenic | not provided | 2021-07-01 | criteria provided, single submitter | clinical testing |