ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3794G>T (p.Gly1265Val)

dbSNP: rs1554395370
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594452 SCV000709270 uncertain significance not provided 2017-06-08 criteria provided, single submitter clinical testing
Counsyl RCV000664824 SCV000788842 uncertain significance Cystic fibrosis 2017-01-04 criteria provided, single submitter clinical testing
Mendelics RCV000664824 SCV000886386 uncertain significance Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000664824 SCV001425411 uncertain significance Cystic fibrosis 2020-05-22 criteria provided, single submitter clinical testing CFTR c.3794G>T has been previously identified in individuals with features of cystic fibrosis and has been reported in ClinVar. It is absent from a large population dataset. Three bioinformatic tools queried predict that this substitution would probably be damaging, and the glycine residue at this position is evolutionarily conserved across all species assessed. Due to lack of functional evidence that this variant is deleterious, we consider its the clinical significance to be uncertain at this time.
Genome-Nilou Lab RCV000664824 SCV002027519 uncertain significance Cystic fibrosis 2021-09-05 criteria provided, single submitter clinical testing
Invitae RCV000664824 SCV002930594 uncertain significance Cystic fibrosis 2022-10-18 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1265 of the CFTR protein (p.Gly1265Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with CFTR-related conditions (PMID: 26708955). ClinVar contains an entry for this variant (Variation ID: 502505). 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 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.

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