ClinVar Miner

Submissions for variant NM_000310.4(PPT1):c.529C>T (p.Gln177Ter)

dbSNP: rs386833650
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409681 SCV000486098 likely pathogenic Neuronal ceroid lipofuscinosis 1 2016-03-29 criteria provided, single submitter clinical testing
Invitae RCV000409681 SCV003266169 pathogenic Neuronal ceroid lipofuscinosis 1 2023-08-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 370716). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with PPT1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln177*) 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).

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