ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.2T>G (p.Met1Arg)

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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. RCV003452475 SCV004188775 likely pathogenic Cowden syndrome 1 2023-09-25 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant is located within the gene translation start codon (p.Met1?) and is predicted to result in abnormal protein translation.

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