Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Mendelics | RCV000987960 | SCV001137475 | pathogenic | Cystic fibrosis | 2019-05-28 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000987960 | SCV002647687 | uncertain significance | Cystic fibrosis | 2024-12-02 | criteria provided, single submitter | clinical testing | The 6T variant, located in intron 9 of the CFTR gene, is an alteration within the poly-thymidine tract. Typically the poly-T tract consists of 5, 7, or 9 thymidine repeats. The efficiency of exon 10 splicing consistently decreases with shorter polythymidine tracts, resulting in a lower than normal level of fulllength CFTR protein; the effect of 5T on exon 10 splicing is also influenced by the adjacent TG tract, which usually consists of 11, 12, or 13 TG repeats (Sosnay PR et al. Pediatr. Clin. North Am., 2016 08;63:585-98). A similar variant, (TG)13-6T variant, has been identified in trans with a pathogenic CFTR mutation in males with congenital bilateral absence of the vas deferens (CBAVD) (Dayangaç D et al. Hum. Reprod., 2004 May;19:1094-100; Viel M et al. Eur. J. Hum. Genet., 2005 Feb;13:136-8); however, the clinical contribution of this variant to the development of CFTR-related disorders is uncertain. Based on available evidence to date, the clinical significance of this alteration remains unclear. |
| Juno Genomics, |
RCV004796337 | SCV005416171 | pathogenic | Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation | criteria provided, single submitter | clinical testing | PS3+PM3_VeryStrong |