ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000225555 SCV001585367 pathogenic Neuronal ceroid lipofuscinosis 1 2020-06-26 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 238 of the PPT1 protein (p.Pro238Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Batten disease (PMID: 30541466). ClinVar contains an entry for this variant (Variation ID: 236407). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.
Suma Genomics RCV000225555 SCV001847688 likely pathogenic Neuronal ceroid lipofuscinosis 1 criteria provided, single submitter clinical testing
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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