ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.362C>A (p.Ala121Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003452480 SCV004188796 likely pathogenic Cowden syndrome 1 2023-09-27 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant is expected to disrupt protein structure [Myriad internal data]. Functional studies indicate this variant impacts protein function [PMID: 29785012, 32350270].

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