Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189798 | SCV000243446 | uncertain significance | not provided | 2014-04-03 | criteria provided, single submitter | clinical testing | p.Leu13Phe (CTC>TTC): c.37 C>T in exon 2 of the TPP1 gene (NM_000391.3) The L13F 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 L13F 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 across species. However, in silico analysis predicts this variant likely does not alter 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. The variant is found in INFANT-EPI panel(s). |
Natera, |
RCV001833131 | SCV002094893 | uncertain significance | Neuronal ceroid lipofuscinosis 2 | 2020-07-08 | no assertion criteria provided | clinical testing |