ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.802-4_804delinsA (rs1064792911)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462895 SCV000541607 likely pathogenic PTEN hamartoma tumor syndrome 2018-02-27 criteria provided, single submitter clinical testing This variant is a complex sequence change that deletes the acceptor site in intron 7 and the first three nucleotides of exon 8 of the PTEN gene. It also inserts one nucleotide in intron 7. The effect of this change is uncertain, but it is likely to disrupt mRNA splicing and result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PTEN-related disease. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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