Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001555377 | SCV001776787 | pathogenic | not provided | 2021-11-16 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25157968, 22729224, 31290289, 33415748) |
| 3billion | RCV002051848 | SCV002318562 | pathogenic | Megalencephaly-capillary malformation-polymicrogyria syndrome | 2022-03-22 | criteria provided, single submitter | clinical testing | Same or different nucleotide change resulting in same amino acid change has been previously reported to be associated with PIK3CA related disorder (ClinVar ID: VCV000376247, PMID:22729224). The variant has been previously reported as de novo in a similarly affected individual (PMID: 22729224). Different pathogenic/likely pathogenic amino acid change has been reported with supporting evidence at the same codon (ClinVar ID: VCV000376053). The variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported. In silico tool predictions suggest damaging effect of the variant on gene or gene product(3CNET: 0.96>=0.75). A missense variant is a common mechanism. It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
| Database of Curated Mutations |
RCV000437691 | SCV000505528 | likely pathogenic | Neoplasm of the large intestine | 2015-07-14 | no assertion criteria provided | literature only |