Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001174696 | SCV001337949 | likely pathogenic | Cowden syndrome | 2020-01-14 | criteria provided, single submitter | clinical testing | Variant summary: PTEN c.888T>A (p.Cys296X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251220 control chromosomes (gnomAD). To the best of our knowledge, there are no reports of c.888T>A in individuals affected with Cowden Syndrome and no experimental evidence demonstrating an impact on protein function in the literature. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Ambry Genetics | RCV002375053 | SCV002685344 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-11-21 | criteria provided, single submitter | clinical testing | The p.C296* pathogenic mutation (also known as c.888T>A), located in coding exon 8 of the PTEN gene, results from a T to A substitution at nucleotide position 888. This changes the amino acid from a cysteine to a stop codon within coding exon 8. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Myriad Genetics, |
RCV003449567 | SCV004189569 | pathogenic | Cowden syndrome 1 | 2023-10-02 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |