ClinVar Miner

Submissions for variant NM_001142604.2(PPT1):c.125-2974T>G (rs1557714302)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group, Broad Institute RCV000785936 SCV000924516 likely pathogenic Neuronal ceroid lipofuscinosis 1 2018-06-15 criteria provided, single submitter research The homozygous p.Leu49Ter variant was identified by our study in two siblings with neuronal ceroid lipofuscinosis. This variant was absent from large population studies and computational prediction tools suggest that this variant may impact the protein. Loss of function of the PPT1 gene is an established disease mechanism in autosomal recessive neuronal ceroid lipofuscinosis, and this is a loss of function variant. In summary, although additional studies are required to fully establish its pathogenicity, this variant is likely pathogenic.

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