Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000810444 | SCV000950643 | likely pathogenic | Amelocerebrohypohidrotic syndrome | 2018-09-10 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ROGDI are known to be pathogenic (PMID: 22424600, 23086778). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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 ROGDI-related disease. This variant is present in population databases (rs754417953, ExAC 0.01%). This sequence change affects a donor splice site in intron 8 of the ROGDI gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |
| Gene |
RCV001824380 | SCV002074060 | likely pathogenic | not provided | 2022-02-02 | criteria provided, single submitter | clinical testing | Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |