ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.166T>A (p.Phe56Ile)

dbSNP: rs1589640376
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000705 SCV001157746 uncertain significance not specified 2018-07-11 criteria provided, single submitter clinical testing The PTEN c.166T>A; p.Phe56Ile variant, to our knowledge, has not been reported in the medical literature or gene-specific databases in any individuals affected with a PTEN-related disorder. It is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The phenylalanine at codon 56 is highly conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is deleterious. However, due to the lack of clinical and functional data regarding this variant, its clinical significance cannot be determined with certainty.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196839 SCV001367472 uncertain significance Familial meningioma 2019-04-02 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3.

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