Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189801 | SCV000243449 | uncertain significance | not provided | 2014-09-22 | criteria provided, single submitter | clinical testing | p.His435Asp (CAC>GAC): c.1303 C>G in exon 11 of the TPP1 gene (NM_000391.3) The H435D 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 H435D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved across species, and 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 CHILD-EPI panel(s). |
Invitae | RCV000189801 | SCV001539082 | uncertain significance | not provided | 2021-08-27 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001833132 | SCV002094815 | uncertain significance | Neuronal ceroid lipofuscinosis 2 | 2021-01-28 | no assertion criteria provided | clinical testing |