ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.469G>T (p.Glu157Ter) (rs121909220)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PTEN Variant Curation Expert Panel RCV000735259 SCV000863471 pathogenic PTEN hamartoma tumor syndrome 2018-10-30 reviewed by expert panel curation PTEN c.469G>T (p.E157X) meets criteria to be classified as pathogenic for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (PMID 30311380). Please see a summary of the rules and criteria codes in the "PTEN ACMG Specifications Summary" document (assertion method column). PVS1: Null variant predicted to result in nonsense-mediated decay or causing truncation/frameshift at or 5' to c.1121 (NM_000314.4). PM2: Absent in large sequenced populations (PMID 27535533). PS4_P: Proband(s) with phenotype specificity score of 1-1.5. (PMID 8071972)
OMIM RCV000008258 SCV000028465 pathogenic Lhermitte-Duclos disease 1997-05-01 no assertion criteria provided literature only

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