ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.496del (p.His166fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003738531 SCV004560021 pathogenic not provided 2024-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His166Metfs*17) in the TPP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TPP1 are known to be pathogenic (PMID: 10330339). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TPP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2911404). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005051379 SCV005683695 likely pathogenic Neuronal ceroid lipofuscinosis 2; Autosomal recessive spinocerebellar ataxia 7 2024-06-07 criteria provided, single submitter clinical testing

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