ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.338G>T (p.Ser113Ile) (rs587781254)

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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 RCV000128453 SCV000930130 uncertain significance PTEN hamartoma tumor syndrome 2019-03-05 reviewed by expert panel curation PTEN c.338G>T (p.S113I) is currently classified as a variant of uncertain significance 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). PM2: Absent in large sequenced populations (PMID 27535533). PP2: PTEN is defined by the PTEN Expert Panel as a gene that has a low rate of benign missense variation and where missense variants are a common mechanism of disease. BS3_P: In vitro or in vivo functional study or studies showing no damaging effect on protein function but BS3 not met. (PMID 29706350)
Medical Molecular Genetics,University of Birmingham RCV000128453 SCV000172154 pathogenic PTEN hamartoma tumor syndrome 2012-08-01 no assertion criteria provided clinical testing Clinically treated as causative

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