ClinVar Miner

Submissions for variant NM_018941.4(CLN8):c.593_596dup (p.Met200fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224910 SCV001397137 pathogenic Neuronal ceroid lipofuscinosis 2019-06-27 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the CLN8 gene (p.Met200Serfs*48). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 87 amino acids of the CLN8 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with clinical features of Neuronal ceroid lipofuscinosis (Invitae). This variant disrupts the C-terminus of the CLN8 protein. Other variant(s) that disrupt this region (p.Gln255*) have been determined to be pathogenic (PMID: 28116333). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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