Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Medical Genetics, |
RCV000416709 | SCV000267110 | likely pathogenic | FG syndrome 1 | 2016-04-15 | criteria provided, single submitter | clinical testing | Hemizygosity for c.1862G>A was detected in the proband and an affected fetus. The variant was inherited from the unaffected mother were the mutated allele was completely inactivated in blood (100:0 skewed X chromosome inactivation). The variant was found to be de novo in the mother. The variant predicts the amino acid substitution p.Arg621Gln. The Arg621 is conserved across species from human to xenopus as well as in the paralog MED12L. The variant has not been reported in ExAc (Oct2015). |
Gene |
RCV000416709 | SCV001809977 | not provided | FG syndrome 1 | no assertion provided | literature only | Reported in male sibs with nonspecific intellectual disability |