Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001174678 | SCV001337911 | likely pathogenic | Cystic fibrosis | 2023-11-09 | criteria provided, single submitter | clinical testing | Variant summary: CFTR c.3134C>A (p.Ser1045Tyr) results in a non-conservative amino acid change located in the second transmembrane domain (IPR011527) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 250734 control chromosomes (gnomAD). c.3134C>A has been reported in the literature in individuals affected with Cystic Fibrosis, one patient in the homozygous state (Rana-Diez_2008) and another patient in the compound heterozygous state with a pathogenic variant (Arora_2016). These data indicate that the variant may be associated with disease. A functional study found that the variant results in normal synthesis and trafficking, but rapid endocytosis and degradation (Arora_2016). The following publications have been ascertained in the context of this evaluation (PMID: 18676185, 27261451). One submitter has cited a clinical-significance assessment for this variant to ClinVar after 2014 and has classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Institute of Human Genetics, |
RCV001174678 | SCV002574024 | likely pathogenic | Cystic fibrosis | 2022-09-05 | criteria provided, single submitter | curation | This variant was identified in 1 patient with a clinically confirmed diagnosis of cystic fibrosis. The variant was classified in the context of a project re-classifying variants in the German Cystic Fibrosis Registry (Muko.e.V.). Link: https://www.muko.info/angebote/qualitaetsmanagement/register/cf-einrichtungen/mukoweb. Criteria applied: PS3_MOD, PM3, PM2_SUP, PP3 |
| Baylor Genetics | RCV003473719 | SCV004213439 | likely pathogenic | Bronchiectasis with or without elevated sweat chloride 1 | 2023-08-03 | criteria provided, single submitter | clinical testing |