ClinVar Miner

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

dbSNP: rs587776892
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000632720 SCV000753906 pathogenic Neuronal ceroid lipofuscinosis 2023-11-19 criteria provided, single submitter clinical testing This variant, c.346_348del, 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 (gnomAD no frequency). This variant has been observed in individual(s) with adult-onset neuronal ceroid lipofuscinosis (PMID: 21820099, 22073189, 22235333, 22978711). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 30893). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects DNAJC5 function (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 Ceroid lipofuscinosis, neuronal, 4 (Kufs type) 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 Ceroid lipofuscinosis, neuronal, 4 (Kufs type) 2013-06-01 no assertion criteria provided literature only

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