ClinVar Miner

Submissions for variant NM_001122752.2(SERPINI1):c.508A>G (p.Arg170Gly)

gnomAD frequency: 0.00013  dbSNP: rs774989939
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000691347 SCV000819123 uncertain significance Familial encephalopathy with neuroserpin inclusion bodies 2024-12-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 170 of the SERPINI1 protein (p.Arg170Gly). This variant is present in population databases (rs774989939, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SERPINI1-related conditions. ClinVar contains an entry for this variant (Variation ID: 570487). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt SERPINI1 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen RCV003311880 SCV004011506 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing SERPINI1: BP4
PreventionGenetics, part of Exact Sciences RCV003918128 SCV004742361 uncertain significance SERPINI1-related disorder 2023-11-22 no assertion criteria provided clinical testing The SERPINI1 c.508A>G variant is predicted to result in the amino acid substitution p.Arg170Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.013% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.