Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000490957 | SCV000580027 | pathogenic | Hereditary cancer-predisposing syndrome | 2013-09-19 | criteria provided, single submitter | clinical testing | ​The p.Y155H variant (also known as c.463T>C) is located in coding exon 5 of the PTEN gene. This alteration results from a T to C substitution at nucleotide position 463. The tyrosine at codon 155 is replaced by histidine, an amino acid with similar properties. This alteration has been reported in the literature in multiple patients who met the clinical criteria for Cowden Syndrome (Tan et al. Am J Hum Genet. 2011 Jan 7;88(1):42-56; Pilarski et al. J Med Genet. 2011 Aug;48(8):505-12). This variant was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP) and 1000 Genomes Project. Based on protein sequence alignment, this amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic. |
| Genetics and Molecular Pathology, |
RCV003447532 | SCV004175629 | pathogenic | Macrocephaly-autism syndrome | 2023-03-14 | criteria provided, single submitter | clinical testing | |
| Myriad Genetics, |
RCV003449273 | SCV004188752 | likely pathogenic | Cowden syndrome 1 | 2023-09-28 | criteria provided, single submitter | clinical testing | This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 32350270]. This variant is expected to disrupt protein structure [Myriad internal data]. |