ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.1021G>A (p.Glu341Lys)

gnomAD frequency: 0.00001  dbSNP: rs184945579
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000761789 SCV000891984 uncertain significance not provided 2018-10-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001330918 SCV001522777 uncertain significance Exudative vitreoretinopathy 4 2019-03-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV000761789 SCV001557999 uncertain significance not provided 2024-12-30 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 341 of the LRP5 protein (p.Glu341Lys). This variant is present in population databases (rs184945579, gnomAD 0.01%). This missense change has been observed in individual(s) with low bone mass (PMID: 34639175). ClinVar contains an entry for this variant (Variation ID: 623782). 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 LRP5 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.
Fulgent Genetics, Fulgent Genetics RCV002493389 SCV002776739 uncertain significance Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Osteoporosis; Polycystic liver disease 4 with or without kidney cysts 2021-07-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333108 SCV004040937 uncertain significance Osteoporosis 2023-04-14 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.