ClinVar Miner

Submissions for variant NM_000062.3(SERPING1):c.51+3A>T

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 RCV003837792 SCV004631963 likely pathogenic not provided 2023-04-10 criteria provided, single submitter clinical testing This variant has been observed in individuals with hereditary angioedema (PMID: 30278448; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 2 of the SERPING1 gene. It does not directly change the encoded amino acid sequence of the SERPING1 protein. It affects a nucleotide within the consensus splice site. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the c.51+3A nucleotide in the SERPING1 gene. Other variant(s) that disrupt this nucleotide have been determined to be pathogenic (PMID: 15971231, 16470590, 24456027). This suggests that this nucleotide is clinically significant, and that variants that disrupt this position are likely to be disease-causing.

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.