ClinVar Miner

Submissions for variant NM_003805.5(CRADD):c.509G>A (p.Arg170His)

gnomAD frequency: 0.00053  dbSNP: rs141179774
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Statistical Genetics, Columbia University 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, BGI Genomics 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.

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