ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.936del (p.Phe312fs) (rs386833966)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803462 SCV000943334 pathogenic Neuronal ceroid lipofuscinosis 2018-12-29 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the CLN5 gene (p.Phe361Leufs*4). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 47 amino acids of the CLN5 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with neuronal ceroid lipofuscinosis (NCL) (PMID: 20157158). ClinVar contains an entry for this variant (Variation ID: 56528). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant disrupts the C-terminus of the CLN5 protein. Other variant(s) that disrupt this region (p.Tyr392*) have been observed in individuals with CLN5-related conditions (PMID: 9662406, 20052765, 11971870, 24058541, 24038957). This suggests that this may be a clinically significant region of the protein. For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049941 SCV000082350 probable-pathogenic Ceroid lipofuscinosis neuronal 5 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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