ClinVar Miner

Submissions for variant NM_000310.4(PPT1):c.289_290del (p.Gln97fs)

dbSNP: rs1649597261
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061953 SCV001226720 pathogenic Neuronal ceroid lipofuscinosis 1 2019-12-03 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PPT1 are known to be pathogenic (PMID: 10679943). This variant has not been reported in the literature in individuals with PPT1-related conditions. This sequence change creates a premature translational stop signal (p.Gln97Glyfs*4) in the PPT1 gene. It is expected to result in an absent or disrupted protein product.
Natera, Inc. RCV001061953 SCV002086000 pathogenic Neuronal ceroid lipofuscinosis 1 2020-11-23 no assertion criteria provided clinical testing

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