ClinVar Miner

Submissions for variant NM_000310.3(PPT1):c.627+1G>T (rs1265044710)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544945 SCV000640459 likely pathogenic Ceroid lipofuscinosis neuronal 1 2018-10-11 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 6 of the PPT1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a PPT1-related disease. In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in PPT1 are known to be pathogenic (PMID: 10679943). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.
Counsyl RCV000544945 SCV001132477 likely pathogenic Ceroid lipofuscinosis neuronal 1 2016-12-20 no assertion criteria provided clinical testing

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