Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CFTR2 | RCV000046367 | SCV000245986 | pathogenic | Cystic fibrosis | 2017-03-17 | reviewed by expert panel | research | |
Johns Hopkins Genomics, |
RCV000046367 | SCV000992331 | pathogenic | Cystic fibrosis | 2019-03-07 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000046367 | SCV004803358 | pathogenic | Cystic fibrosis | 2024-01-15 | criteria provided, single submitter | clinical testing | Variant summary: CFTR c.164+1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 5' splicing donor site. Several publications report experimental evidence that this variant affects mRNA splicing (e.g., Castellani_2008, Joynt_2020). The variant was absent in 249608 control chromosomes (gnomAD). c.164+1G>A has been reported in the literature in individuals affected with Cystic Fibrosis (e.g., Walkowiak_2001, Krenkova_2012, Kalelkar_2022). These data indicate that the variant is likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 18456578, 33085659, 34957709, 23276700, 11589722). ClinVar contains an entry for this variant (Variation ID: 53303). Based on the evidence outlined above, the variant was classified as pathogenic. |
Baylor Genetics | RCV004566865 | SCV005057412 | pathogenic | Bronchiectasis with or without elevated sweat chloride 1 | 2024-03-24 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001826615 | SCV002080076 | pathogenic | CFTR-related disorder | 2017-03-17 | no assertion criteria provided | clinical testing |