Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001174595 | SCV001337787 | uncertain significance | not specified | 2020-01-17 | criteria provided, single submitter | clinical testing | Variant summary: CFTR c.1210-12[6] (also known as 6T allele or c.1210-6delT) involves the deletion of an intronic thymine nucleotide from a poly-T tract that is adjacent to a polymorphic TG repeat motif. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4.8e-05 in 247720 control chromosomes (gnomAD and publications). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. The variant has been reported in non-CF individuals in the literature including individuals affected with bronchial asthma, chronic bronchitis, bronchiectasis, CBAVD and chronic pancreatitis (e.g. Dayangac_2004, Lee_2003, Nakano_2015, Rohlfs_2003, Viel_2005, Wang_2012) but also, in East Asian controls (e.g. Fujiki_2004, Chang_2007, Huang_2008, Jin_2012, Iso_2019). These reports do not provide unequivocal conclusions about association of the variant with Cystic Fibrosis. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance until additional evidence of clinical and functional importance becomes available. |
Gene |
RCV000588295 | SCV001982495 | uncertain significance | not provided | 2021-03-29 | criteria provided, single submitter | clinical testing | Also known as c.1210-6delT, IVS8 6T, IVS8 T6, 1342-12 to 1342-6 delT, 1342-6delT; referred to as the 6T allele; Observed with another variant for which phase was unknown, in patients with congenital absence of vas deferens in the published literature (Dayangac 2004, Viel 2005); Observed in the heterozygous state in individuals with bronchiectasis and chronic pancreatitis (Lee 2003, Nakano 2015); This variant is associated with the following publications: (PMID: 17539902, 18350634, 16212675, 15121783, 15070876, 23554779, 12952861, 30811104, 22191729, 15562283, 23092102, 30450785, 25492507, 20879059, 32757986) |
Genome- |
RCV001785671 | SCV002027391 | uncertain significance | Cystic fibrosis | 2021-09-05 | criteria provided, single submitter | clinical testing |