ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.951_954ACTT[1] (p.Leu318_Thr319insTer) (rs146650273)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473522 SCV000541603 pathogenic PTEN hamartoma tumor syndrome 2017-12-07 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides from exon 8 of the PTEN mRNA (c.955_958delACTT), causing a frameshift at codon 319. This creates a premature translational stop signal (p.Thr319*) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in PTEN are known to be pathogenic. This particular variant has been reported in individuals with Cowden syndrome, Lhermitte-Duclos disease, Parkinson's disease, and Bannayan-Riley-Ruvalcaba syndrome (PMID: 9288766, 23335809, 23470840, 24102544, 26362251, 10400993). This variant is also known as c.950_953delTACT in the literature. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000491407 SCV000579965 pathogenic Hereditary cancer-predisposing syndrome 2017-08-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Pathway Genomics RCV000144657 SCV000189984 pathogenic Cowden syndrome 1 2014-07-24 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000583484 SCV000692022 pathogenic not provided no assertion criteria provided clinical testing
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785363 SCV000923932 pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research

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