ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1449dup (p.Ile484fs)

dbSNP: rs1057516264
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410133 SCV000485377 likely pathogenic Neuronal ceroid lipofuscinosis 2 2015-11-24 criteria provided, single submitter clinical testing
Invitae RCV001390448 SCV001592187 pathogenic not provided 2022-07-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 370140). This premature translational stop signal has been observed in individual(s) with neuronal ceroid lipofuscinoses (PMID: 30541466). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Ile484Aspfs*7) 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).
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000410133 SCV000803212 likely pathogenic Neuronal ceroid lipofuscinosis 2 2016-03-16 no assertion criteria provided clinical testing The observed variant NM_000391.3:c.1449_1450insG (p.Ile484AspfsTer7) was neither found in 1000 Genomes nor in ExAC databases. The in silico prediction of the given variant is disease causing by MutationTaster2. The above mentioned variant was identified as compound heterozygous along with another variant NM_000391.3:c.689_689delT (p.Phe230SerfsTer28). The variant c.689_689delT (p.Phe230SerfsTer28) was neither found in 1000 Genomes nor in ExAC databases. The in silico prediction of the given variant is disease causing by MutationTaster2.

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