ClinVar Miner

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

dbSNP: rs386833964
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724349 SCV000230323 pathogenic not provided 2014-11-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001389657 SCV001591100 pathogenic Neuronal ceroid lipofuscinosis 2023-11-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu358Alafs*4) in the CLN5 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 50 amino acid(s) of the CLN5 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with neuronal ceroid lipofuscinosis (PMID: 19309691, 20157158, 31105743). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. 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.
Genome-Nilou Lab RCV000049939 SCV001977489 pathogenic Neuronal ceroid lipofuscinosis 5 2021-08-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV000049939 SCV004214397 pathogenic Neuronal ceroid lipofuscinosis 5 2023-01-28 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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