ClinVar Miner

Submissions for variant NM_018941.3(CLN8):c.70C>G (p.Arg24Gly) (rs104894064)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409951 SCV000485234 pathogenic Ceroid lipofuscinosis neuronal 8 2016-03-08 criteria provided, single submitter clinical testing
GeneReviews RCV000002936 SCV000086981 pathologic Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 2013-08-01 no assertion criteria provided curation Converted during submission to Pathogenic.
Invitae RCV000820654 SCV000961374 pathogenic Neuronal ceroid lipofuscinosis 2018-10-09 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 24 of the CLN8 protein (p.Arg24Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs104894064, ExAC 0.06%). This variant has been observed to segregate with progressive epilepsy with mental retardation, also known as Northern epilepsy, in several families (PMID: 10508524, 16828266). It has generally been reported as homozygous in affected individuals of Finnish descent, suggesting it may be a founder mutation in that population. ClinVar contains an entry for this variant (Variation ID: 2802). Experimental studies have shown that this missense change does not alter the sub-cellular localization of the CLN8 protein, so the mechanism of disease is unclear (PMID: 10861296, 15160397). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002936 SCV000023094 pathogenic Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 1999-10-01 no assertion criteria provided literature only

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