ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.924_925del (p.Leu309fs) (rs386833964)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724349 SCV000230323 pathogenic not provided 2014-11-08 criteria provided, single submitter clinical testing
Invitae RCV001389657 SCV001591100 pathogenic Neuronal ceroid lipofuscinosis 2020-05-12 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the CLN5 gene (p.Leu358Alafs*4). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 50 amino acids of the CLN5 protein. This variant is not present in population databases (ExAC no frequency). This truncating variant has been observed in individual(s) with neuronal ceroid lipofuscinosis (PMID: 20157158, 31105743, 19309691). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 56526). For these reasons, this variant has been classified as Pathogenic.
Nilou-Genome Lab RCV000049939 SCV001977489 pathogenic Neuronal ceroid lipofuscinosis 5 2021-08-10 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049939 SCV000082348 probable-pathogenic Neuronal ceroid lipofuscinosis 5 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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