Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000989152 | SCV001139368 | pathogenic | Neuronal ceroid lipofuscinosis | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000989152 | SCV001516317 | uncertain significance | Neuronal ceroid lipofuscinosis | 2022-08-30 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 279 of the CLN5 protein (p.Asp279Asn). This variant is present in population databases (rs28940280, gnomAD 0.006%). This missense change has been observed in individual(s) with neuronal ceroid lipofuscinosis (PMID: 9662406, 16814585). ClinVar contains an entry for this variant (Variation ID: 2566). 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"). Experimental studies have shown that this missense change affects CLN5 function (PMID: 12134079, 20052765, 24058541, 26342652). 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- |
RCV000002675 | SCV001977465 | likely pathogenic | Neuronal ceroid lipofuscinosis 5 | 2021-08-10 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000002675 | SCV000022833 | pathogenic | Neuronal ceroid lipofuscinosis 5 | 1998-07-01 | no assertion criteria provided | literature only |