Submissions for variant NM_000314.8(PTEN):c.545T>C (p.Leu182Ser)

dbSNP: rs794729664

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Clingen PTEN Variant Curation Expert Panel, Clingen	RCV000790887	SCV000930117	uncertain significance	PTEN hamartoma tumor syndrome	2023-12-01	reviewed by expert panel	curation	PTEN c.545T>C (p.Leu182Ser) is currently classified as a variant of uncertain significance for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (ACMG Classification Rules Specified for PTEN Variant Curation version 3.0.0). Please see a summary of the rules and criteria codes in the “PTEN ACMG Specifications Summary” document (assertion method column). Of note, this variant may be disease-causing when present in the homozygous state (PMID: 26443266), but this expert panel curation is based on presence in the heterozygous state. 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. PP3: REVEL score > 0.7 (score of this variant =0.972)
Institute of Human Genetics, University of Leipzig Medical Center	RCV001264833	SCV001443034	pathogenic	Cowden syndrome 1	2020-03-01	criteria provided, single submitter	clinical testing	Review of the variants reported in Reuter et al., 2017, PMID: 28097321: PS3,PM2,PM3_Supporting,PM5,PP3
Institute of Human Genetics, FAU Erlangen-Nuremberg	RCV000185586	SCV000212235	pathogenic	Macrocephaly-autism syndrome	2015-03-01	no assertion criteria provided	clinical testing