Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000049598 | SCV000800701 | uncertain significance | Neuronal ceroid lipofuscinosis 1 | 2018-04-25 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000049598 | SCV001415148 | uncertain significance | Neuronal ceroid lipofuscinosis 1 | 2019-08-15 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine with proline at codon 91 of the PPT1 protein (p.Gln91Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is present in population databases (rs386833639, ExAC 0.02%). This variant has been observed in individuals affected with neuronal ceroid lipofuscinosis (PMID: 17044973, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 56187). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000049598 | SCV000082005 | probable-pathogenic | Neuronal ceroid lipofuscinosis 1 | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |