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
Counsyl RCV000228420 SCV000795085 likely pathogenic Ceroid lipofuscinosis neuronal 1 2017-10-26 criteria provided, single submitter clinical testing
Invitae RCV000228420 SCV000284564 likely pathogenic Ceroid lipofuscinosis neuronal 1 2016-01-01 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 8. It is expected to disrupt mRNA 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. Truncating variants in PPT1 are known to be pathogenic (PMID: 10679943), and donor splice site variants are typically pathogenic (PMID: 16199547). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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