Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000029539 | SCV000052191 | likely pathogenic | Cystic fibrosis | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Likely pathogenic. |
Ambry Genetics | RCV000029539 | SCV002630543 | likely pathogenic | Cystic fibrosis | 2017-11-14 | criteria provided, single submitter | clinical testing | The c.4242+2T>C intronic variant results from a T to C substitution two nucleotides after coding exon 26 in the CFTR gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice donor site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic. |
Labcorp Genetics |
RCV000029539 | SCV004675881 | pathogenic | Cystic fibrosis | 2023-01-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). ClinVar contains an entry for this variant (Variation ID: 35884). Disruption of this splice site has been observed in individual(s) with cystic fibrosis (PMID: 1379210, 7682196, 15074370). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 26 of the CFTR gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. |
Natera, |
RCV000029539 | SCV001456317 | likely pathogenic | Cystic fibrosis | 2020-09-16 | no assertion criteria provided | clinical testing |