ClinVar Miner

Submissions for variant NM_000310.3(PPT1):c.175del (p.Glu59fs) (rs386833635)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000049594 SCV000550824 pathogenic Neuronal ceroid lipofuscinosis 1 2019-05-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu59Argfs*12) 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 on the opposite chromosome (in trans) from another pathogenic variant in an individual affected with neuronal ceroid lipofuscinosis (PMID:10679943). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 56183). Loss-of-function variants in PPT1 are known to be pathogenic (PMID: 10679943). For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049594 SCV000082001 probable-pathogenic Neuronal ceroid lipofuscinosis 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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