Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000571971 | SCV000671720 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-06-01 | criteria provided, single submitter | clinical testing | The p.W111* pathogenic mutation (also known as c.333G>A), located in coding exon 5 of the PTEN gene, results from a G to A substitution at nucleotide position 333. This changes the amino acid from a tryptophan to a stop codon within coding exon 5. A different nucleotide substitution (c.332G>A) resulting in a stop codon at the same position (p.W111*) was identified in a 4 year-old with PTEN hamartoma tumor syndrome (PHTS) (Tan MH et al. Am. J. Hum. Genet. 2011 Jan;88(1):42-56). In addition to the clinical data presented in the literature, since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
| Gene |
RCV003225092 | SCV003921627 | pathogenic | not provided | 2022-10-26 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 30851333) |
| Myriad Genetics, |
RCV003451265 | SCV004188818 | pathogenic | Cowden syndrome 1 | 2023-09-27 | 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. |