ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.945T>G (p.Tyr315Ter) (rs876661058)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475538 SCV000541606 pathogenic PTEN hamartoma tumor syndrome 2016-09-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 315 (p.Tyr315*) of the PTEN gene. It 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 the literature in a family affected with Cowden syndrome (PMID: 9467011). For these reasons, this variant has been classified as Pathogenic.

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