ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.77-2A>G

dbSNP: rs2471793974
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003529405 SCV004353611 pathogenic Thrombophilia due to protein S deficiency, autosomal recessive 2023-11-06 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 1 of the PROS1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with protein S deficiency (PMID: 10456456, 31068512; Invitae). Studies have shown that disruption of this splice site results in aberrant splicing of exon 2 and introduces a premature termination codon (PMID: 10456456). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.

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.