ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.16A>G (p.Lys6Glu) (rs1589596143)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798296 SCV000937903 uncertain significance PTEN hamartoma tumor syndrome 2019-06-16 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 6 of the PTEN protein (p.Lys6Glu). The lysinen residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with clinical features of PTEN hamartoma tumor syndrome (PMID: 24375884). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly 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.
Ambry Genetics RCV001012790 SCV001173290 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-24 criteria provided, single submitter clinical testing Insufficient evidence
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198257 SCV001369131 likely pathogenic Global developmental delay; Delayed speech and language development; Macrocephalus; Intellectual disability; Ventriculomegaly 2019-05-31 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP2,PP3. This variant was detected in heterozygous state.

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