Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Statistical Genetics, |
RCV001261380 | SCV001438290 | pathogenic | Intellectual disability | 2020-10-16 | criteria provided, single submitter | research | |
OMIM | RCV000412611 | SCV000490264 | pathogenic | Intellectual disability, autosomal recessive 34 | 2023-02-17 | no assertion criteria provided | literature only | |
Reproductive Health Research and Development, |
RCV000412611 | SCV001142435 | likely pathogenic | Intellectual disability, autosomal recessive 34 | 2020-01-06 | no assertion criteria provided | curation | NM_003805.3:c.509G>A in the CRADD gene has an allele frequency of 0.006 in European (Finnish) subpopulation in the gnomAD database. Functional studies demonstrate that Arg107Cys failed to induce cell death (PMID:27773430). Pathogenic computational verdict because pathogenic predictions from DANN, DEOGEN2, EIGEN, FATHMM-MKL, M-CAP, MutationAssessor, MutationTaster, REVEL and SIFT. The patient's phenotype is highly specific for CRADD gene(PMID: 27773430). Taken together, we interprete this variant as Pathogenic/Likely pathogenic. ACMG/AMP criteria applied: PS3; PP3; PP4. |