Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Johns Hopkins Genomics, |
RCV001200893 | SCV001371808 | uncertain significance | Cystic fibrosis | 2020-01-27 | criteria provided, single submitter | clinical testing | CFTR c.3460G>A has not been reported in any patients with cystic fibrosis to our knowledge. It is absent from ClinVar and a large population database. Two other substitutions at this residue are present in ClinVar (p.Asp1154Tyr: uncertain clinical significance; p.Asp1154Gly: no assertion). Of three bioinformatics tools queried, two predict that p.Asp1154Asn would probably be damaging, while one predicts that it would be tolerated. The aspartic acid residue at this position is conserved in all species assessed except lamprey. We consider the clinical significance of c.3460G>A to be uncertain at this time. |
Ambry Genetics | RCV001200893 | SCV002618651 | uncertain significance | Cystic fibrosis | 2020-03-30 | criteria provided, single submitter | clinical testing | The p.D1154N variant (also known as c.3460G>A), located in coding exon 21 of the CFTR gene, results from a G to A substitution at nucleotide position 3460. The aspartic acid at codon 1154 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |