Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neurogenetics Laboratory - |
RCV000417030 | SCV000494548 | likely pathogenic | Intellectual disability, autosomal dominant 5 | 2016-11-16 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics Munich, |
RCV000417030 | SCV001150274 | pathogenic | Intellectual disability, autosomal dominant 5 | 2019-05-22 | criteria provided, single submitter | clinical testing | |
3billion | RCV000417030 | SCV004013540 | pathogenic | Intellectual disability, autosomal dominant 5 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. In silico tools predict the variant to alter splicing and produce an abnormal transcript (SpliceAI: 0.77). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000375528 / PMID: 26079862). The variant has been previously reported as de novo in a similarly affected individual (PMID: 25533962). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. |