ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.755A>G (p.Asp252Gly) (rs121909239)

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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 RCV000758222 SCV000886855 likely pathogenic PTEN hamartoma tumor syndrome 2018-07-25 reviewed by expert panel curation PTEN c.755A>G (p.D252G) meets criteria to be classified as likely 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). PM2: Absent in large sequenced populations (PMID 27535533). PM6: Assumed de novo, but without confirmation of paternity and maternity in a patient with the disease and no family history. (PMID 23335809, personal communication with corresponding author) PS4_M: Probands with phenotype specificity score of 2-3.5. (PMID 23335809, 15805158) 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. PS3_P: Abnormal in vitro cellular assay or transgenic model with phenotype different from wild type that does not meet PS3. (PMID 21828076, 29706633, 25527629, 29706350)
OMIM RCV000008299 SCV000028506 pathogenic Macrocephaly/autism syndrome 2005-04-01 no assertion criteria provided literature only

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