ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.901G>A (p.Asp301Asn) (rs758644748)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000223261 SCV000278438 uncertain significance Hereditary cancer-predisposing syndrome 2017-02-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000699550 SCV000828265 uncertain significance PTEN hamartoma tumor syndrome 2018-06-14 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 301 of the PTEN protein (p.Asp301Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs758644748, ExAC 0.003%). This variant has not been reported in the literature in individuals with PTEN-related disease. ClinVar contains an entry for this variant (Variation ID: 233963). In vitro experimental studies have shown that this missense change is not likely to affect the tumor suppressor function of PTEN on the phosphorylation of Akt at the Ser473 residue (PMID: 19329485). However, this variant has been shown to affect a Caspase-3 cleavage site on the PTEN protein that might result in reduced protein stability of PTEN (PMID: 12788938). 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.
Mendelics RCV000699550 SCV000838424 uncertain significance PTEN hamartoma tumor syndrome 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000986006 SCV001134779 uncertain significance not provided 2019-08-02 criteria provided, single submitter clinical testing

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