ClinVar Miner

Submissions for variant NM_000310.4(PPT1):c.637G>T (p.Glu213Ter)

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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 RCV003620765 SCV004412753 pathogenic Neuronal ceroid lipofuscinosis 1 2023-01-28 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PPT1-related conditions. For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Glu213*) in the PPT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PPT1 are known to be pathogenic (PMID: 10679943, 21990111).
Baylor Genetics RCV003620765 SCV005052448 likely pathogenic Neuronal ceroid lipofuscinosis 1 2023-11-20 criteria provided, single submitter clinical testing

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