Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001002079 | SCV001159921 | uncertain significance | not specified | 2018-08-24 | criteria provided, single submitter | clinical testing | The CFTR c.778G>A; p.Val260Met variant, to our knowledge, is not described in the medical literature or in gene-specific databases, and is only found on 1 allele in the Genome Aggregation Database. The valine at codon 260 is moderately conserved, but computational algorithms (PolyPhen-2: probably damaging, SIFT: tolerated) predict conflicting effects of this variant on protein structure/function. Due to the lack of clinical and functional data regarding this variant, its clinical significance cannot be determined with certainty. |
Ambry Genetics | RCV002409334 | SCV002673022 | uncertain significance | Cystic fibrosis | 2019-07-30 | criteria provided, single submitter | clinical testing | The p.V260M variant (also known as c.778G>A), located in coding exon 7 of the CFTR gene, results from a G to A substitution at nucleotide position 778. The valine at codon 260 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well 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, |
RCV001832321 | SCV002078138 | uncertain significance | CFTR-related disorders | 2018-11-06 | no assertion criteria provided | clinical testing |