Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001024561 | SCV001186593 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-06-26 | criteria provided, single submitter | clinical testing | The p.V194L variant (also known as c.580G>C), located in coding exon 5 of the ATM gene, results from a G to C substitution at nucleotide position 580. The valine at codon 194 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved through mammals but leucine is the reference amino acid in many lower vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |