ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.376_380+6del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001235198 SCV001407874 pathogenic Neuronal ceroid lipofuscinosis 2019-09-09 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 4 (c.376_380+6del) of the TPP1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has been observed in individuals affected with neuronal ceroid lipofuscinosis (PMID: 10330339). This variant is also known as 3081-3091del in the literature. Loss-of-function variants in TPP1 are known to be pathogenic (PMID: 10330339). For these reasons, this variant has been classified as Pathogenic.

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