ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.635-2A>G

dbSNP: rs1564566706
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729356 SCV000857010 pathogenic not provided 2017-09-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000792482 SCV000931784 pathogenic PTEN hamartoma tumor syndrome 2024-01-13 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 6 of the PTEN gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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 (gnomAD no frequency). Disruption of this splice site has been observed in individuals with Bannayan-Riley-Ruvalcaba syndrome or Cowden syndrome (PMID: 16021145, 24379037, 28677221; Invitae). ClinVar contains an entry for this variant (Variation ID: 594139). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV003453520 SCV004188767 likely pathogenic Cowden syndrome 1 2023-09-29 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.
Clinical Genetics, Academic Medical Center RCV000729356 SCV001924216 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000729356 SCV001958633 pathogenic not provided no assertion criteria provided clinical testing

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