ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.261G>C (p.Lys87Asn)

dbSNP: rs149408554
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
Invitae RCV000820852 SCV000961584 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2022-08-23 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 663062). This variant has not been reported in the literature in individuals affected with LAMB2-related conditions. This variant is present in population databases (rs149408554, gnomAD 0.009%). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 87 of the LAMB2 protein (p.Lys87Asn).
GeneDx RCV001759607 SCV001996856 uncertain significance not provided 2019-12-20 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV000820852 SCV002778359 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2021-07-29 criteria provided, single submitter clinical testing

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.