ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.795_801+1del

dbSNP: rs1589663644
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001026989 SCV001189475 pathogenic Hereditary cancer-predisposing syndrome 2019-01-31 criteria provided, single submitter clinical testing The c.795_801+1delAAAAAAGG pathogenic mutation results from the deletion of 8 nucleotides from positions c.795 to c.801+1 between coding exon 7 and intron 7 of the PTEN gene. This alteration was confirmed to be a de novo occurrence in a proband with features of PTEN hamartoma tumor syndrome (PHTS) (Ambry internal data). Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.

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