Total submissions: 1
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. |