ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.271+1G>A

dbSNP: rs786204639
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169420 SCV000220828 likely pathogenic Glutaric aciduria, type 1 2014-10-21 criteria provided, single submitter literature only
Eurofins Ntd Llc (ga) RCV000727581 SCV000854824 pathogenic not provided 2018-08-17 criteria provided, single submitter clinical testing
Invitae RCV000169420 SCV002156946 pathogenic Glutaric aciduria, type 1 2023-02-07 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 189030). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. This variant is also known as IVS3+1G>A. This sequence change affects a donor splice site in intron 4 of the GCDH gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GCDH are known to be pathogenic (PMID: 10699052, 11854167, 16602100). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with glutaric acidemia type I (PMID: 11058907). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals.

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.