Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000493479 | SCV000581862 | likely pathogenic | not provided | 2020-01-30 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 19383612, 21990111, 20157158, 30919163) |
Invitae | RCV001318349 | SCV001509047 | uncertain significance | Neuronal ceroid lipofuscinosis | 2022-08-15 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 374 of the CLN5 protein (p.Tyr374Cys). This variant is present in population databases (rs148862100, gnomAD 0.002%). This missense change has been observed in individuals with neuronal ceroid lipofuscinosis (PMID: 19383612, 20157158). ClinVar contains an entry for this variant (Variation ID: 2570). 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. |
Genome- |
RCV000002679 | SCV001977466 | likely pathogenic | Neuronal ceroid lipofuscinosis 5 | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000002679 | SCV004214372 | likely pathogenic | Neuronal ceroid lipofuscinosis 5 | 2023-10-02 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000002679 | SCV000022837 | pathogenic | Neuronal ceroid lipofuscinosis 5 | 2010-02-16 | no assertion criteria provided | literature only | |
Counsyl | RCV000002679 | SCV000800566 | uncertain significance | Neuronal ceroid lipofuscinosis 5 | 2019-06-06 | no assertion criteria provided | clinical testing |