ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1210-12_1210-11insGTG

dbSNP: rs4148705
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001347071 SCV001541315 uncertain significance Cystic fibrosis 2020-10-10 criteria provided, single submitter clinical testing This variant consists of 13 TG and 6 T nucleotide repeats and is located in intron 9 of the CFTR gene. While this variant is present in population databases (rs397843667), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a CFTR-related disease. However, it occurs on the opposite chromosome (in trans) from a pathogenic variant in CFTR in an unaffected individual (Invitae database). Considering that biallelic pathogenic variants in CFTR are expected to cause cystic fibrosis or congenital bilateral absence of the vas deferens (CBAVD), this evidence indicates this TG[13]T[6] allele is not a primary cause of disease. Different TG variants, TG[11]T6 and TG[12]T[6], have been reported in individuals affected with bronchial asthma and chronic bronchitis, as well as healthy individuals (PMID: 18350634, 23554779). A different TG13 variant, TG[13]T[5] is known to induce skipping of exon 9, and has been observed in individuals affected with CBAVD and cystic fibrosis (PMID: 10556281, 14685937), while the TG[13]T[7] variant has only been reported in controls (PMID: 24551851). 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 RCV003478793 SCV004221655 uncertain significance not provided 2021-12-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004545209 SCV004763783 likely benign CFTR-related disorder 2022-03-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.