ClinVar Miner

Submissions for variant NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs) (rs587776672)

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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 RCV000758228 SCV000886863 likely pathogenic PTEN hamartoma tumor syndrome 2018-07-25 reviewed by expert panel curation PTEN c.802delG (p.Asp268Thrfs) 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). 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).
OMIM RCV000008287 SCV000028494 pathogenic Cowden syndrome 1 2001-03-01 no assertion criteria provided literature only

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