ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.635-3C>G (rs1085308056)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Herman Laboratory,Nationwide Children's Hospital RCV000490589 SCV000579285 pathogenic PTEN hamartoma tumor syndrome 2017-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491647 SCV000579957 likely pathogenic Hereditary cancer-predisposing syndrome 2016-11-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Rarity in general population databases (dbsnp, esp, 1000 genomes),Other strong data supporting pathogenic classification
Invitae RCV000490589 SCV000812483 uncertain significance PTEN hamartoma tumor syndrome 2018-06-22 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the PTEN gene. It does not directly change the encoded amino acid sequence of the PTEN protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with PTEN hamartoma tumour syndrome (PMID: 28526761, 19265751), and was identified in an individual affected with Cowden syndrome (PMID: 23335809). This variant is also known as IVS6-3C>G in the literature. ClinVar contains an entry for this variant (Variation ID: 427599). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
MutSpliceDB: a database of splice sites variants effects on splicing,NIH RCV000853544 SCV000996514 not provided not provided no assertion provided in vivo

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