ClinVar Miner

Submissions for variant NM_005765.3(ATP6AP2):c.168+6T>A

dbSNP: rs1057519331
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
Ambry Genetics RCV002402114 SCV002714499 uncertain significance Inborn genetic diseases 2016-09-22 criteria provided, single submitter clinical testing The c.168+6T>A intronic variant results from a T to A substitution 6 nucleotides after coding exon 2 in the ATP6AP2 gene. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples with coverage at this position. Using two different splice site prediction tools, this alteration is predicted by BDGP to abolish the native splice donor site, but is predicted to weaken (but not abolish) the efficiency of the native splice donor site by ESEfinder; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
OMIM RCV000416367 SCV000494069 pathogenic Syndromic X-linked intellectual disability Hedera type 2021-08-20 no assertion criteria provided literature only

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.