Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003556106 | SCV004296724 | uncertain significance | not provided | 2023-12-19 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 435 of the WRAP53 protein (p.Gly435Arg). This variant is present in population databases (rs281865550, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of dyskeratosis congenita (PMID: 21205863, 30552426). ClinVar contains an entry for this variant (Variation ID: 41251). 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 WRAP53 function (PMID: 21205863). 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. |
OMIM | RCV000034151 | SCV000045259 | pathogenic | Dyskeratosis congenita, autosomal recessive 3 | 2011-01-01 | no assertion criteria provided | literature only | |
Gene |
RCV000034151 | SCV000058088 | not provided | Dyskeratosis congenita, autosomal recessive 3 | no assertion provided | literature only |