ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.212G>T (p.Cys71Phe)

dbSNP: rs1554897856
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000551939 SCV000645557 uncertain significance PTEN hamartoma tumor syndrome 2017-07-12 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals with PTEN-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with phenylalanine at codon 71 of the PTEN protein (p.Cys71Phe). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and phenylalanine.
Ambry Genetics RCV001014557 SCV001175278 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-17 criteria provided, single submitter clinical testing The p.C71F variant (also known as c.212G>T), located in coding exon 4 of the PTEN gene, results from a G to T substitution at nucleotide position 212. The cysteine at codon 71 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV001014557 SCV001356968 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000551939 SCV004838541 uncertain significance PTEN hamartoma tumor syndrome 2023-05-08 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV004554806 SCV005043921 pathogenic PTEN-related disorder 2024-03-15 criteria provided, single submitter clinical testing PS2, PM1, PM2, PP2, PP3
Mayo Clinic Laboratories, Mayo Clinic RCV004791555 SCV005412167 uncertain significance not provided 2024-07-16 criteria provided, single submitter clinical testing PP2, PP3, PM2, PM5

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