ClinVar Miner

Submissions for variant NM_000310.4(PPT1):c.776dup (p.Glu260fs)

gnomAD frequency: 0.00001  dbSNP: rs1349528345
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673195 SCV000798371 likely pathogenic Neuronal ceroid lipofuscinosis 1 2018-03-08 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000673195 SCV001870333 pathogenic Neuronal ceroid lipofuscinosis 1 2020-10-30 criteria provided, single submitter research ACMG codes:PVS1, PM2, PM3
Invitae RCV000673195 SCV002247163 pathogenic Neuronal ceroid lipofuscinosis 1 2022-06-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PPT1 protein in which other variant(s) (p.Leu271*) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 557103). This premature translational stop signal has been observed in individual(s) with neuronal ceroid lipofuscinosis (PMID: 23857568). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu260Glyfs*35) in the PPT1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 47 amino acid(s) of the PPT1 protein.

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