ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.456G>C (p.Arg152Ser) (rs869025274)

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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 RCV000207147 SCV000262580 likely pathogenic Ceroid lipofuscinosis neuronal 2 2015-10-17 no assertion criteria provided clinical testing Variant c.456G>C/ p.R152S [ENST00000299427] found to be pathogenic by online software including Mutation Taster, Polyphen2 and SIFT.

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