Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001020258 | SCV001181713 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-08-16 | criteria provided, single submitter | clinical testing | The p.H114R variant (also known as c.341A>G), located in coding exon 2 of the FLCN gene, results from an A to G substitution at nucleotide position 341. The histidine at codon 114 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well conserved in available 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. |