Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001010544 | SCV001170762 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-04-24 | criteria provided, single submitter | clinical testing | The p.L417F variant (also known as c.1251A>C), located in coding exon 9 of the FH gene, results from an A to C substitution at nucleotide position 1251. The leucine at codon 417 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |