ClinVar Miner

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

dbSNP: rs786204753
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169608 SCV000221130 likely pathogenic Neuronal ceroid lipofuscinosis 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 RCV000189791 SCV001589888 pathogenic not provided 2021-10-27 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with late-infantile neuronal ceroid lipofuscinosis (PMID: 11339651). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 189179). This variant is not present in population databases (gnomAD no frequency). 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. Loss-of-function variants in TPP1 are known to be pathogenic (PMID: 10330339).
Fulgent Genetics, Fulgent Genetics RCV002498846 SCV002809603 pathogenic Neuronal ceroid lipofuscinosis 2; Autosomal recessive spinocerebellar ataxia 7 2022-04-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV000169608 SCV002094810 pathogenic Neuronal ceroid lipofuscinosis 2 2021-09-24 no assertion criteria provided clinical testing

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