ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1449dup (p.Ile484fs) (rs1057516264)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410133 SCV000485377 likely pathogenic Ceroid lipofuscinosis neuronal 2 2015-11-24 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics RCV000410133 SCV000803212 likely pathogenic Ceroid lipofuscinosis neuronal 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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