Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
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, |
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. |