ClinVar Miner

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

dbSNP: rs1564566706
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003509610 SCV004333532 pathogenic PTEN hamartoma tumor syndrome 2023-12-28 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: 635375). 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.
MutSpliceDB: a database of splice sites variants effects on splicing, NIH RCV000786802 SCV000925694 not provided not provided no assertion provided in vitro

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