Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189770 | SCV000243418 | uncertain significance | not provided | 2017-02-01 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the TPP1 gene. The S213L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The S213L variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server. The S213L 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. 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 variant or a rare benign variant. |
Invitae | RCV000189770 | SCV001009724 | likely benign | not provided | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Pars Genome Lab | RCV001274540 | SCV001736765 | uncertain significance | Neuronal ceroid lipofuscinosis 2 | 2021-05-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001274540 | SCV001806168 | uncertain significance | Neuronal ceroid lipofuscinosis 2 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001578829 | SCV001806169 | uncertain significance | Autosomal recessive spinocerebellar ataxia 7 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001274540 | SCV001458790 | uncertain significance | Neuronal ceroid lipofuscinosis 2 | 2020-05-20 | no assertion criteria provided | clinical testing |