ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.696del (p.Arg233fs)

dbSNP: rs587776669
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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, Clingen RCV000790898 SCV000930138 likely pathogenic PTEN hamartoma tumor syndrome 2023-06-14 reviewed by expert panel curation NM_000314.8(PTEN):c.696del (p.Arg233AspfsTer23) variant meets criteria to be classified as likely pathogenic 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). PVS1: Null variant predicted to result in nonsense-mediated decay or causing truncation/frameshift at or 5’ to c.1121 (NM_000314.8). PM2_P: Absent in large sequenced populations in the gnomAD cohort (PMID:27535533).
OMIM RCV000008268 SCV000028475 pathogenic Cowden syndrome 1 2003-09-01 no assertion criteria provided literature only

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