ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.209+2T>A (rs878853937)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229236 SCV000284587 likely pathogenic PTEN hamartoma tumor syndrome 2016-01-12 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 3. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. Truncating variants in PTEN are known to be pathogenic. This particular variant has been reported in the literature in an a patient affected with PTEN hamartoma tumor syndrome (PMID: 2333580). In summary, donor and acceptor splice site variants are typically truncating (PMID: 16199547), and truncating variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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