ClinVar Miner

Submissions for variant NM_000310.4(PPT1):c.798+2T>C

dbSNP: rs1553166337
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674642 SCV000800013 likely pathogenic Neuronal ceroid lipofuscinosis 1 2018-05-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000674642 SCV003510408 pathogenic Neuronal ceroid lipofuscinosis 1 2022-10-28 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 8 of the PPT1 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with neuronal ceroid lipofuscinosis (PMID: 24997880; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 558381). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000674642 SCV004204164 pathogenic Neuronal ceroid lipofuscinosis 1 2023-01-18 criteria provided, single submitter clinical testing

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