Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001044966 | SCV001208792 | uncertain significance | Neuronal ceroid lipofuscinosis | 2022-05-19 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 198 of the CLN5 protein (p.Leu198Pro). This variant is present in population databases (rs386833976, gnomAD 0.0009%). This missense change has been observed in individual(s) with neuronal ceroid lipofuscinosis (PMID: 21990111, 30264640). ClinVar contains an entry for this variant (Variation ID: 56540). 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: "Deleterious"; 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 |
RCV000049953 | SCV000082362 | probable-pathogenic | Neuronal ceroid lipofuscinosis 5 | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. | |
Natera, |
RCV000049953 | SCV001453816 | uncertain significance | Neuronal ceroid lipofuscinosis 5 | 2020-09-16 | no assertion criteria provided | clinical testing |