ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.353A>G (p.His118Arg) (rs1554898107)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570987 SCV000671737 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-22 criteria provided, single submitter clinical testing The p.H118R variant (also known as c.353A>G), located in coding exon 5 of the PTEN gene, results from an A to G substitution at nucleotide position 353. The histidine at codon 118 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000698943 SCV000827634 uncertain significance PTEN hamartoma tumor syndrome 2018-01-18 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 118 of the PTEN protein (p.His118Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PTEN-related disease. 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: "Deleterious"; PolyPhen-2: "Benign"; 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.

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