ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.651C>T (p.Val217=) (rs886038278)

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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 RCV000758235 SCV000886873 likely benign PTEN hamartoma tumor syndrome 2018-07-25 reviewed by expert panel curation PTEN c.651C>T (p.V217=) meets criteria to be classified as likely benign 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). BP4: Synonymous variant where at least 2 out of 3 in silico models predict no splicing impact. BP7: Variant is synonymous (silent), nucleotide is not conserved, and no splicing impact is predicted.
PreventionGenetics RCV000246431 SCV000303573 benign not specified 2012-08-30 criteria provided, single submitter clinical testing

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