Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Research Unit for Rare Diseases, |
RCV000023879 | SCV000999258 | pathogenic | Ceroid lipofuscinosis, neuronal, 4 (Kufs type) | criteria provided, single submitter | research | The c.344T>G (p.(L115R)) in exon 4 of DNAJC5 (NM_025219.2) variant was reported by Noskova et al. in 2011 as causative for ausomal dominant adult-onset neuronal ceroid lipofuscinosis (DOI: 10.1016/j.ajhg.2011.07.003). | |
Gene |
RCV002466414 | SCV002762200 | pathogenic | not provided | 2022-06-08 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect on protein function (Greaves et al., 2012; Jedlikov et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22978711, 26610600, 31919451, 24277206, 22235333, 21820099, 12112194, 11489285, 22073189, 22902780) |
OMIM | RCV000023879 | SCV000045170 | pathogenic | Ceroid lipofuscinosis, neuronal, 4 (Kufs type) | 2013-06-01 | no assertion criteria provided | literature only |