Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189761 | SCV000243409 | uncertain significance | not provided | 2018-10-15 | criteria provided, single submitter | clinical testing | p.Val142Gly (GTG>GGG): c.425 T>G in exon 5 of the TPP1 gene (NM_000391.3) The V142G variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The V142G variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant and is interpreted to be a variant of uncertain significance. The variant is found in CHILD-EPI panel(s). |
Invitae | RCV000189761 | SCV000548739 | likely benign | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001833128 | SCV002094871 | uncertain significance | Neuronal ceroid lipofuscinosis 2 | 2020-03-13 | no assertion criteria provided | clinical testing |