ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.117+1G>A

gnomAD frequency: 0.00001  dbSNP: rs570952151
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000685237 SCV000812710 pathogenic Amelocerebrohypohidrotic syndrome 2021-04-30 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 of the ROGDI gene. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product. This variant is present in population databases (rs570952151, ExAC 0.06%). Disruption of this splice site has been observed in individual(s) with Kohlschütter-Tönz syndrome (PMID: 25565929). ClinVar contains an entry for this variant (Variation ID: 565630). Studies have shown that this variant is associated with skipping of exon 2 but is expected to preserve the integrity of the reading frame (PMID: 25565929). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000685237 SCV003813948 likely pathogenic Amelocerebrohypohidrotic syndrome 2022-02-15 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.