ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.184del (p.Ser62fs) (rs1554902217)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000677192 SCV000803215 likely pathogenic Ceroid lipofuscinosis neuronal 2 2015-07-17 no assertion criteria provided clinical testing The observed variant NM_000391.3:c.184delT (p.Ser62ArgfsTer19) is neither present in 1000 Genomes nor in ExAC databases. The in silico prediction of the given variant is disease causing by MutationTaster2. The given variant was identified in compound heterozygous form along with another known mutation c.857A>G (p.Asn286Ser). The mutation NM_000391.3:c.857A>G (p.Asn286Ser) was neither found in 1000 Genomes or in ExAC databases. The in silico prediction of the given mutation is disease causing by MutationTaster2, deleterious by SIFT, and probably damaging by PolyPhen2.

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