Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000164267 | SCV000214892 | uncertain significance | Hereditary cancer-predisposing syndrome | 2014-05-01 | criteria provided, single submitter | clinical testing | The p.M431I variant (also known as c.1293G>A), located in coding exon 9 of the APC gene, results from a G to A substitution at nucleotide position 1293. The methionine at codon 431 is replaced by isoleucine, an amino acid with highly similar properties. 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. To date, this alteration has been detected with an allele frequency of approximately 0.01% (greater than 9500 alleles tested) in our clinical cohort (includes this individual). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be benign and tolerated by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of p.M431I remains unclear. |
Department of Pathology and Laboratory Medicine, |
RCV001357599 | SCV001553113 | uncertain significance | not provided | no assertion criteria provided | clinical testing |