Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Soonchunhyang University Bucheon Hospital, |
RCV000490484 | SCV000267563 | uncertain significance | Dyskeratosis congenita, autosomal recessive 3 | 2016-03-18 | criteria provided, single submitter | reference population | |
Invitae | RCV001853393 | SCV002207007 | uncertain significance | not provided | 2022-10-31 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala522Argfs*26) in the WRAP53 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 27 amino acid(s) of the WRAP53 protein. This variant is present in population databases (rs755116516, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with WRAP53-related conditions. ClinVar contains an entry for this variant (Variation ID: 225516). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
Fulgent Genetics, |
RCV000490484 | SCV002789050 | uncertain significance | Dyskeratosis congenita, autosomal recessive 3 | 2022-04-28 | criteria provided, single submitter | clinical testing | |
Center of Medical Genetics and Primary Health Care | RCV001005032 | SCV000987285 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-04-08 | no assertion criteria provided | research | ACMG Guidelines 2015 criteria PP3 Pathogenic Supporting: 1 pathogenic prediction from GERP vs no benign predictions. BS1 Benign Strong: GnomAD exomes East Asian allele frequency = 0.0012 > 0.000528 derived from the 60 clinically reported variants in gene WRAP53 of which 2 PATH, 25 VUS and 33 BEN. Therefore, this variant was classified as a Variant of Unknown Significance. |