ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.5374T>C (p.Tyr1792His)

gnomAD frequency: 0.00004  dbSNP: rs146542222
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 RCV002036074 SCV002310580 uncertain significance Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2021-11-27 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 1792 of the LRP4 protein (p.Tyr1792His). This variant is present in population databases (rs146542222, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with LRP4-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV003250438 SCV003966491 uncertain significance Inborn genetic diseases 2023-04-04 criteria provided, single submitter clinical testing The c.5374T>C (p.Y1792H) alteration is located in exon 37 (coding exon 37) of the LRP4 gene. This alteration results from a T to C substitution at nucleotide position 5374, causing the tyrosine (Y) at amino acid position 1792 to be replaced by a histidine (H). 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.