ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.652+4C>T

gnomAD frequency: 0.00024  dbSNP: rs192813501
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001919099 SCV002177534 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the LRP2 gene. It does not directly change the encoded amino acid sequence of the LRP2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs192813501, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with LRP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1412453). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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 RCV002478378 SCV002782526 uncertain significance Donnai-Barrow syndrome 2024-04-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004801087 SCV005423317 uncertain significance not specified 2024-10-15 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.