Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001879774 | SCV002118620 | uncertain significance | not provided | 2021-05-03 | 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals with WRAP53-related conditions. ClinVar contains an entry for this variant (Variation ID: 973618). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with tryptophan at codon 521 of the WRAP53 protein (p.Gly521Trp). The glycine residue is moderately conserved and there is a large physicochemical difference between glycine and tryptophan. |
| UOSD Laboratory of Genetics & Genomics of Rare Diseases, |
RCV001267739 | SCV001424130 | uncertain significance | Dyskeratosis congenita, autosomal recessive 3 | 2020-05-21 | no assertion criteria provided | clinical testing |