ClinVar Miner

Submissions for variant NM_000190.4(HMBS):c.499-1G>A

dbSNP: rs1565756481
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
Invitae RCV001389654 SCV001591092 pathogenic not provided 2023-06-23 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1465). This variant is also known as an IVS9 acceptor site variant. Disruption of this splice site has been observed in individual(s) with acute intermittent porphyria (PMID: 8270256). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 8 of the HMBS 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 HMBS are known to be pathogenic (PMID: 7757070, 7962538). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.
OMIM RCV000001530 SCV000021685 pathogenic Acute intermittent porphyria 1994-01-01 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.