ClinVar Miner

Submissions for variant NM_018941.4(CLN8):c.398T>A (p.Leu133Ter)

dbSNP: rs554042394
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674248 SCV000799552 likely pathogenic Neuronal ceroid lipofuscinosis 8 2018-04-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001381243 SCV001579562 pathogenic Neuronal ceroid lipofuscinosis 2020-06-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu133*) in the CLN8 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CLN8-related conditions. ClinVar contains an entry for this variant (Variation ID: 558034). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in CLN8 are known to be pathogenic (PMID: 15024724). For these reasons, this variant has been classified as Pathogenic.

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