ClinVar Miner

Submissions for variant NM_000324.3(RHAG):c.1067+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1562012617
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003387721 SCV004099940 pathogenic Rh deficiency syndrome 2023-09-18 criteria provided, single submitter clinical testing Variant summary: RHAG c.1067+1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a canonical 5' splicing donor site. At least one publication reports experimental evidence that this variant affects mRNA splicing (Huang_1998), finding that the variant results in skipping of exon 7 which is expected to cause a frameshift. The variant was absent in 251022 control chromosomes (gnomAD). c.1067+1G>A has been reported in the literature in a homozygous individual affected with Rh-null disease (Huang_1998) and a heterozygous individual affected with overhydrated stomatocytosis (Jamwal_2020). These data indicate that the variant is likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 9442063, 32036089). No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000013939 SCV000034186 pathogenic Rh-null, regulator type 1999-09-01 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.