ClinVar Miner

Submissions for variant NM_001558.4(IL10RA):c.975G>C (p.Lys325Asn)

gnomAD frequency: 0.00001  dbSNP: rs375357983
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001987441 SCV002218438 uncertain significance Inflammatory bowel disease 28 2024-10-14 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 325 of the IL10RA protein (p.Lys325Asn). This variant is present in population databases (rs375357983, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with IL10RA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1443157). 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 expected to disrupt IL10RA protein function with a positive predictive value of 80%. 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.
Ambry Genetics RCV002562855 SCV003711845 uncertain significance Inborn genetic diseases 2021-12-06 criteria provided, single submitter clinical testing The c.975G>C (p.K325N) alteration is located in exon 7 (coding exon 7) of the IL10RA gene. This alteration results from a G to C substitution at nucleotide position 975, causing the lysine (K) at amino acid position 325 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.