Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000480397 | SCV000573090 | uncertain significance | not provided | 2017-02-07 | criteria provided, single submitter | clinical testing | The P561L variant in the MED12 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P561L variant is observed in 1/5278 (0.019%) alleles from individuals of East Asian background, including one hemizygous individual, in the ExAC dataset (Lek et al., 2016. The P561L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret P561L as a variant of uncertain significance. |
Invitae | RCV003762751 | SCV000754958 | likely benign | FG syndrome | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002413338 | SCV002715286 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-09-26 | criteria provided, single submitter | clinical testing | The p.P561L variant (also known as c.1682C>T), located in coding exon 12 of the MED12 gene, results from a C to T substitution at nucleotide position 1682. The proline at codon 561 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV000480397 | SCV003810883 | uncertain significance | not provided | 2021-09-16 | criteria provided, single submitter | clinical testing |