ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.357dup (p.Leu120fs)

dbSNP: rs1554902085
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670223 SCV000795053 likely pathogenic Neuronal ceroid lipofuscinosis 2 2017-10-25 criteria provided, single submitter clinical testing
Invitae RCV001385878 SCV001585886 pathogenic not provided 2023-09-11 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 554563). This sequence change creates a premature translational stop signal (p.Leu120Serfs*18) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with neuronal ceroid lipofuscinosis (PMID: 11339651). This variant is also known as 1-bp insertion of "T". For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002493105 SCV002801476 pathogenic Neuronal ceroid lipofuscinosis 2; Autosomal recessive spinocerebellar ataxia 7 2022-03-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV000670223 SCV002094875 pathogenic Neuronal ceroid lipofuscinosis 2 2021-02-17 no assertion criteria provided clinical testing

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