Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Demoulin lab, |
RCV001249591 | SCV001423560 | pathogenic | Infantile myofibromatosis | 2018-08-10 | criteria provided, single submitter | research | The mutation strongly activates PDGFRB signaling in in vitro assays (gain of function). |
3billion, |
RCV001810006 | SCV002058431 | uncertain significance | Acroosteolysis-keloid-like lesions-premature aging syndrome | 2022-01-03 | criteria provided, single submitter | clinical testing | The variant reported as a pathogenic variant (ClinVar ID: VCV000973199) but it has only been observed as a somatic variant for a different phenotype, infantile myofibromatosis (OMIM: 228550), and therefore not used as a supporting evidence. It is not observed in the gnomAD v2.1.1 dataset (PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.805, 3CNET: 0.924, PP3_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline. |