ClinVar Miner

Submissions for variant NC_000010.11:g.(?_87894025)_(87894109_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461142 SCV000563787 pathogenic PTEN hamartoma tumor syndrome 2016-09-20 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 2 of the PTEN gene. This creates a premature translational stop signal 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 the literature in many individuals affected with PTEN hamartoma tumor syndrome (PMID: 20600018, 21956414, 22266152, 23470840, 24778394). For these reasons, this variant has been classified as Pathogenic.

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