Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156193 | SCV000205909 | uncertain significance | not specified | 2013-12-27 | criteria provided, single submitter | clinical testing | The Asp1377Asn variant in CFTR has not been previously identified in individuals with pulmonary disease or in large population studies. Aspartic acid at positio n 1377 is highly conserved in evolution, suggesting that a change would not be t olerated. Other computational analyses (biochemical amino acid properties, Alig nGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impa ct to the protein. In summary, additional information is needed to fully assess its clinical significance. |
Counsyl | RCV000673141 | SCV000798312 | uncertain significance | Cystic fibrosis | 2018-03-07 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001283970 | SCV001469501 | uncertain significance | not provided | 2020-04-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000673141 | SCV002027540 | uncertain significance | Cystic fibrosis | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000673141 | SCV002632696 | uncertain significance | Cystic fibrosis | 2020-04-27 | criteria provided, single submitter | clinical testing | The p.D1377N variant (also known as c.4129G>A), located in coding exon 25 of the CFTR gene, results from a G to A substitution at nucleotide position 4129. The aspartic acid at codon 1377 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. |
Natera, |
RCV001826848 | SCV002075938 | uncertain significance | CFTR-related disorders | 2019-02-06 | no assertion criteria provided | clinical testing |