Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV001268310 | SCV001447142 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
3billion | RCV001580266 | SCV002318595 | pathogenic | FG syndrome 1 | 2022-03-22 | criteria provided, single submitter | clinical testing | Same nucleotide change resulting in same amino acid change has been previously reported to be associated with MED12 related disorder (ClinVar ID: VCV000050279). The variant has been observed in multiple (>3) similarly affected unrelated individuals (PMID: 23395478, 24715367, 30006928). Functional assays showed that the variant had moderate level of impact on gene/protein function (PMID: 23395478). 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. |
OMIM | RCV000043499 | SCV000067332 | pathogenic | Blepharophimosis - intellectual disability syndrome, MKB type | 2013-03-07 | no assertion criteria provided | literature only | |
Gene |
RCV001580266 | SCV000297769 | not provided | FG syndrome 1 | no assertion provided | literature only | Reported in males with X-linked Ohdo syndrome and females with nonspecific intellectual disability |