ClinVar Miner

Submissions for variant NM_025219.3(DNAJC5):c.343_345CTC[1] (p.Leu116del) (rs587776892)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632720 SCV000753906 pathogenic Neuronal ceroid lipofuscinosis 2017-09-27 criteria provided, single submitter clinical testing This variant, c.346_348delCTC, results in the deletion of 1 amino acid(s) of the DNAJC5 protein (p.Leu116del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with adult-onset neuronal ceroid lipofuscinosis in several families (PMID: 21820099, 22235333, 22073189, 22978711). ClinVar contains an entry for this variant (Variation ID: 30893). Experimental studies have shown that this missense change results in palmitoylation-induced aggregation of mutant cysteine-string protein alpha (CSPα), and depletion of functional CSPα (PMID: 21820099, 22902780). For these reasons, this variant has been classified as Pathogenic.
Research Unit for Rare Diseases,1st Faculty of Medicine, Charles University in Prague RCV000023878 SCV000999259 pathogenic Neuronal ceroid lipofuscinosis 4B 2019-09-01 criteria provided, single submitter research The c.343_345del (p.(L116del)), in exon 4 of DNAJC5 (NM_025219.2) variant was reported by Noskova et al. in 2011 as causative for autosomal dominant adult-onset neuronal ceroid lipofuscinosis (DOI: 10.1016/j.ajhg.2011.07.003).
OMIM RCV000023878 SCV000045169 pathogenic Neuronal ceroid lipofuscinosis 4B 2013-06-01 no assertion criteria provided literature only

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