ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.424C>T (p.Arg142Trp) (rs746152219)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178760 SCV000230911 uncertain significance not provided 2014-10-27 criteria provided, single submitter clinical testing
Invitae RCV000533070 SCV000645581 uncertain significance PTEN hamartoma tumor syndrome 2019-11-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 142 of the PTEN protein (p.Arg142Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs746152219, ExAC 0.001%). This variant has been reported in individuals affected with Cowden syndrome (PMID: 25669429), breast and/or ovarian cancer (PMID: 26534844), and endometrial cancer (PMID: 16506206). ClinVar contains an entry for this variant (Variation ID: 197662). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Color RCV000777249 SCV000912947 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000777249 SCV001183833 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-27 criteria provided, single submitter clinical testing Insufficient evidence

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