ClinVar Miner

Submissions for variant NM_000310.3(PPT1):c.798+1G>T (rs878853929)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228420 SCV000284564 likely pathogenic Neuronal ceroid lipofuscinosis 1 2019-11-14 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in the last intron (intron 8) of the PPT1 gene. While this 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 (ExAC no frequency). This variant has been observed in individual(s) with clinical features of neuronal ceroid lipofuscinosis (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 237631). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Counsyl RCV000228420 SCV000795085 likely pathogenic Neuronal ceroid lipofuscinosis 1 2019-07-12 no assertion criteria provided clinical testing

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