ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1310G>A (p.Gly437Asp)

gnomAD frequency: 0.00001  dbSNP: rs765791986
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001070714 SCV001235982 uncertain significance Cystic fibrosis 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 437 of the CFTR protein (p.Gly437Asp). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with clinical features of cystic fibrosis (PMID: 19202204, 28544683). ClinVar contains an entry for this variant (Variation ID: 863689). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CFTR protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001283963 SCV001469493 uncertain significance not provided 2020-01-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001070714 SCV002027398 uncertain significance Cystic fibrosis 2021-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV001070714 SCV003855890 uncertain significance Cystic fibrosis 2022-11-14 criteria provided, single submitter clinical testing The p.G437D variant (also known as c.1310G>A), located in coding exon 10 of the CFTR gene, results from a G to A substitution at nucleotide position 1310. The glycine at codon 437 is replaced by aspartic acid, an amino acid with similar properties. This alteration was identified with 3849+10kbC>T in an individual diagnosed with cystic fibrosis that was pancreatic sufficient and had milder lung disease (Kolesár P et al. Gen Physiol Biophys, 2008 Dec;27:299-305). 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, Inc. RCV001070714 SCV001456068 uncertain significance Cystic fibrosis 2020-09-16 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.