ClinVar Miner

Submissions for variant NM_000310.3(PPT1):c.6del (p.Ser3fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000823029 SCV000963867 pathogenic Ceroid lipofuscinosis neuronal 1 2018-12-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser3Argfs*34) in the PPT1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with variant late infantile neuronal ceroid lipofuscinoses (PMID: 11727201). Loss-of-function variants in PPT1 are known to be pathogenic (PMID: 10679943). For these reasons, this variant has been classified as Pathogenic.

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