Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000049615 | SCV000486751 | likely pathogenic | Neuronal ceroid lipofuscinosis 1 | 2016-08-03 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000731854 | SCV000859710 | pathogenic | not provided | 2018-03-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000049615 | SCV001229728 | likely pathogenic | Neuronal ceroid lipofuscinosis 1 | 2019-11-21 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with lysine at codon 184 of the PPT1 protein (p.Glu184Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs386833655, ExAC 0.02%). This variant has been observed in individual(s) with neuronal ceroid lipofuscinosis (PMID: 9664077, 17044973, 10679943). 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: 56204). This variant has been reported to affect PPT1 protein function (PMID: 11440996). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000049615 | SCV000082022 | probable-pathogenic | Neuronal ceroid lipofuscinosis 1 | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |