Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genetics and Genomics, |
RCV001269522 | SCV001449566 | likely pathogenic | not provided | 2015-01-29 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001269522 | SCV001536251 | uncertain significance | not provided | 2024-01-10 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 398 of the WRAP53 protein (p.Arg398Trp). This variant is present in population databases (rs281865548, gnomAD 0.3%). This missense change has been observed in individual(s) with clinical features of Hoyeraal Hreidarsson syndrome or dyskeratosis congenita (PMID: 21205863, 32303682). ClinVar contains an entry for this variant (Variation ID: 30975). 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, 32303682). 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. |
Hauer Lab, |
RCV003445082 | SCV004174258 | pathogenic | Hereditary cancer-predisposing syndrome | criteria provided, single submitter | research | ACMG/AMP, PVS1, PM2 | |
Fulgent Genetics, |
RCV000023966 | SCV005651087 | likely pathogenic | Dyskeratosis congenita, autosomal recessive 3 | 2023-12-28 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000023966 | SCV000045257 | pathogenic | Dyskeratosis congenita, autosomal recessive 3 | 2011-01-01 | no assertion criteria provided | literature only | |
Gene |
RCV000023966 | SCV000058087 | not provided | Dyskeratosis congenita, autosomal recessive 3 | no assertion provided | literature only |