ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.2029T>C (p.Phe677Leu)

gnomAD frequency: 0.00006  dbSNP: rs373260991
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 RCV000806839 SCV000946858 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2022-05-27 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 677 of the LAMB2 protein (p.Phe677Leu). This variant is present in population databases (rs373260991, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with LAMB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 651471). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV000806839 SCV002783533 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2022-04-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243319 SCV003951898 likely benign Inborn genetic diseases 2023-05-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.