ClinVar Miner

Submissions for variant NM_018941.4(CLN8):c.763C>T (p.Gln255Ter)

dbSNP: rs746397087
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674890 SCV000800300 likely pathogenic Neuronal ceroid lipofuscinosis 8 2018-06-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002544675 SCV003440633 pathogenic Neuronal ceroid lipofuscinosis 2022-12-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CLN8 protein in which other variant(s) (p.Trp263Cys) have been determined to be pathogenic (PMID: 15024724; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 558594). This premature translational stop signal has been observed in individual(s) with neuronal ceroid lipofuscinosis (PMID: 28116333). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs746397087, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gln255*) in the CLN8 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 32 amino acid(s) of the CLN8 protein.

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