ClinVar Miner

Submissions for variant NM_000310.3(PPT1):c.713C>T (p.Pro238Leu) (rs878853322)

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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 RCV000225555 SCV000282513 likely pathogenic Neuronal ceroid lipofuscinosis 1 2015-11-27 no assertion criteria provided research Variant c.713C>T/p.P238L (ENST00000433473) found to be pathogenic by online software Mutation Taster, SIFT and Polyphen2

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