ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.802-4_804delinsA

dbSNP: rs1064792911
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000462895 SCV000541607 likely pathogenic PTEN hamartoma tumor syndrome 2018-02-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with PTEN-related disease. 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. 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). This variant is not present in population databases (ExAC no frequency). 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.

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