Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion | RCV001775117 | SCV002012077 | likely pathogenic | Megalencephaly-capillary malformation-polymicrogyria syndrome | 2021-10-02 | criteria provided, single submitter | clinical testing | Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with supporting evidence (ClinVar ID: VCV000376243.1, PS1_P). The missense variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported (PM1). It is not observed in the gnomAD v2.1.1 dataset (PM2). The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.893, 3Cnet: 0.880, PP3). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Database of Curated Mutations |
RCV000427264 | SCV000505484 | likely pathogenic | Breast neoplasm | 2015-07-14 | no assertion criteria provided | literature only |