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

Total submissions: 5

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	2019-11-04	criteria provided, single submitter	clinical testing	Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;RNA Studies;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).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV000212884	SCV001447583	pathogenic	not provided	2020-10-23	criteria provided, single submitter	clinical testing
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