Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Mendelics | RCV000757796 | SCV000886172 | likely pathogenic | Cystic fibrosis | 2018-11-05 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000757796 | SCV002621772 | likely pathogenic | Cystic fibrosis | 2017-02-22 | criteria provided, single submitter | clinical testing | The p.G1247R variant (also known as c.3739G>A), located in coding exon 23 of the CFTR gene, results from a G to A substitution at nucleotide position 3739. The glycine at codon 1247 is replaced by arginine, an amino acid with dissimilar properties. This variant was not reported in the ExAC database, with coverage at this position. This amino acid substitution (due to a different base pair change, c.3739G>C) was confirmed to be in trans with a known mutation in a female with pancreatic sufficient cystic fibrosis; she was reported to have elevated (but variable) sweat chloride levels, pulmonary symptoms with chronic bacterial colonization, rhinosinusitis, and nasal polyposis (Lucarelli M et al. Mol. Med., 2015 Apr;21:257-75). 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. |