ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.802-2A>T (rs587782455)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PTEN Variant Curation Expert Panel RCV000710295 SCV000840462 pathogenic PTEN hamartoma tumor syndrome 2017-10-18 reviewed by expert panel curation PTEN c.802-2A>T (IVS7-2A>T) meets criteria to be classified as pathogenic for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (Mester et al. 2018; manuscript in preparation). 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). PS4_P: Proband(s) with phenotype specificity score of 1-1.5. (Internal laboratory contributor(s), SCV000222230.9)
Ambry Genetics RCV000131528 SCV000186522 pathogenic Hereditary cancer-predisposing syndrome 2017-06-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
GeneDx RCV000212884 SCV000222230 pathogenic not provided 2014-02-28 criteria provided, single submitter clinical testing The c.802-2 A>T destroys the canonical splice acceptor site in intron 7, and is expected to cause abnormal gene splicing. Although this mutation has not been reported previously to our knowledge, its presence is consistent with the diagnosis of a PTEN-related disorder. This mutation destroys the canonical splice acceptor site in intron 7, and is expected to cause abnormal gene splicing. The variant is found in PTEN-HEREDIC panel(s).
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute RCV000516134 SCV000579242 pathogenic Cowden syndrome 1 2017-05-26 no assertion criteria provided research

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