Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Mendelics | RCV000757875 | SCV000886392 | uncertain significance | Cystic fibrosis | 2018-11-05 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000757875 | SCV002635687 | uncertain significance | Cystic fibrosis | 2014-07-14 | criteria provided, single submitter | clinical testing | The p.K163T variant (also known as c.488A>C), located in coding exon 4 of the CFTR gene, results from an A to C substitution at nucleotide position 488. The lysine at codon 163 is replaced by threonine, an amino acid with similar properties. This variant has been detected in conjunction with a pathogenic mutation in CFTR by our laboratory. It is unknown if this variant is in cis or trans with this pathogenic mutation. 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. In the ESP, this variant was not observed in 6502 samples (13004 alleles) with coverage at this position. This variant is located near the donor site of intron 4. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native donor splice site; however, direct evidence is unavailable. This amino acid position is completely conserved on sequence alignment. 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 variant remains unclear. |