ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.2501T>G (p.Leu834Trp)

gnomAD frequency: 0.00002  dbSNP: rs376526633
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
Invitae RCV001989871 SCV002236037 uncertain significance Hajdu-Cheney syndrome 2023-02-03 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: 1449908). This variant has not been reported in the literature in individuals affected with NOTCH2-related conditions. This variant is present in population databases (rs376526633, gnomAD 0.004%). This sequence change replaces leucine, which is neutral and non-polar, with tryptophan, which is neutral and slightly polar, at codon 834 of the NOTCH2 protein (p.Leu834Trp).
Fulgent Genetics, Fulgent Genetics RCV002484783 SCV002790712 uncertain significance Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2022-01-12 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.