Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000491217 | SCV000580036 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2020-03-06 | criteria provided, single submitter | clinical testing | The p.M35T variant (also known as c.104T>C), located in coding exon 2 of the PTEN gene, results from a T to C substitution at nucleotide position 104. The methionine at codon 35 is replaced by threonine, an amino acid with similar properties. This alteration has described in an individual with Proteus syndrome-like (Zhou X et al. Lancet 2001 Jul; 358(9277):210-1). This alteration has also been described in an individual meeting criteria for Cowden syndrome (CS) (Tan MH et al. Am. J. Hum. Genet. 2011 Jan; 88(1):42-56). A similar alteration at this same amino acid position, p.M35V, has also been identified in multiple individuals meeting full or relaxed International Cowden Consortium operational criteria for Cowden syndrome (CS) (Tan et al.; Ambry internal data). 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. |
| Myriad Genetics, |
RCV003449274 | SCV004188730 | likely pathogenic | Cowden syndrome 1 | 2023-09-26 | criteria provided, single submitter | clinical testing | This variant is considered likely pathogenic. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID 17526801, 11476841, 32442409, 26468640, 30311380]. This variant is expected to disrupt protein structure [Myriad internal data]. |