ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) (rs786204753)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169608 SCV000221130 likely pathogenic Ceroid lipofuscinosis neuronal 2 2015-02-11 criteria provided, single submitter literature only
GeneDx RCV000189791 SCV000243439 pathogenic not provided 2012-04-19 criteria provided, single submitter clinical testing p.Trp460Stop (TGG>TAG): c.1379 G>A in exon 11 of the TPP1 gene (NM_000391.3) The Trp460Stop nonsense mutation in the TPP1 gene has been reported previously in association with neuronal ceroid lipofuscinosis (NCL) (Sleat et al., 1997; Zhong et al., 2000). This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in CHILD-EPI panel(s).
Invitae RCV000532519 SCV000628899 pathogenic Neuronal ceroid lipofuscinosis 2017-08-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp460*) in the TPP1 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 reported in combination with another TPP1 variant in an individual affected with late-infantile neuronal ceroid lipofuscinosis (PMID: 11339651). Loss-of-function variants in TPP1 are known to be pathogenic (PMID:21990111 ). For these reasons, this variant has been classified as Pathogenic.

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