ClinVar Miner

Submissions for variant NM_017838.4(NHP2):c.70T>A (p.Tyr24Asn)

gnomAD frequency: 0.00002  dbSNP: rs757358075
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039524 SCV001203056 uncertain significance Dyskeratosis congenita 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 24 of the NHP2 protein (p.Tyr24Asn). This variant is present in population databases (rs757358075, gnomAD 0.2%). This missense change has been observed in individual(s) with idiopathic pulmonary fibrosis (PMID: 36933847). ClinVar contains an entry for this variant (Variation ID: 838056). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects NHP2 function (PMID: 36933847). 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.

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.