ClinVar Genomic variation as it relates to human health
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys)
Germline
Reviewed by expert panel
Pathogenic
Drug response
for
ivacaftor response - Efficacy
Classification is based on the expert panel submission
Mar 2021 by
PharmGKB
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
CFTR | Gene associated with autosomal recessive phenotype | Not yet evaluated |
GRCh38 GRCh37 |
4081 | 5549 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (5) |
|
Jul 31, 2020 | RCV000577109.15 | |
drug response (1) |
|
Mar 24, 2021 | RCV000660831.5 | |
Likely pathogenic (1) |
|
Jun 12, 2024 | RCV005031528.1 |
Citations for germline classification of this variant
HelpText-mined citations for rs397508759 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Apr 28, 2025