ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.440A>G (p.Lys147Arg) (rs757087471)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000580148 SCV000686290 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-05 criteria provided, single submitter clinical testing
Invitae RCV000696406 SCV000824967 uncertain significance PTEN hamartoma tumor syndrome 2019-09-06 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 147 of the PTEN protein (p.Lys147Arg). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs757087471, ExAC 0.005%). This variant has not been reported in the literature in individuals with PTEN-related disease. ClinVar contains an entry for this variant (Variation ID: 490113). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV000580148 SCV001184175 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-18 criteria provided, single submitter clinical testing Insufficient evidence

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