ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu) (rs121908199)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541263 SCV000628894 pathogenic Neuronal ceroid lipofuscinosis 2019-09-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 389 of the TPP1 protein (p.Gly389Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be homozygous in two individuals with late-infantile neuronal ceroid lipofuscinosis (PMID: 10330339). This gene is also known as CLN2 in the literature. ClinVar contains an entry for this variant (Variation ID: 68737). An experimental study has demonstrated that this missense variant abolishes TPP1 activity in vitro (PMID: 11462245). For these reasons, this variant has been classified as Pathogenic.
UniProtKB/Swiss-Prot RCV000059619 SCV000091185 not provided Ceroid lipofuscinosis neuronal 2 no assertion provided not provided

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