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NM_000492.4(CFTR):c.577G>A (p.Glu193Lys)

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Interpretation:
Pathogenic/Likely pathogenic, drug response​

Review status:
reviewed by expert panel
Submissions:
5 (Most recent: Oct 19, 2021)
Last evaluated:
Jul 31, 2020
Accession:
VCV000054006.4
Variation ID:
54006
Description:
single nucleotide variant
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NM_000492.4(CFTR):c.577G>A (p.Glu193Lys)

Allele ID
68673
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q31.2
Genomic location
7: 117534363 (GRCh38) GRCh38 UCSC
7: 117174417 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P13569:p.Glu193Lys
NM_000492.3:c.577G>A NP_000483.3:p.Glu193Lys missense
NC_000007.13:g.117174417G>A
... more HGVS
Protein change
E193K
Other names
-
Canonical SPDI
NC_000007.14:117534362:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA327578
UniProtKB: P13569#VAR_000132
dbSNP: rs397508759
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 4 reviewed by expert panel Jul 31, 2020 RCV000577109.3
drug response 1 reviewed by expert panel Mar 22, 2018 RCV000660831.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CFTR - - GRCh38
GRCh37
1972 2727

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
drug response
(Mar 22, 2018)
reviewed by expert panel
Method: curation
ivacaftor response - Efficacy
Drug used for Cystic Fibrosis
Allele origin: germline
PharmGKB
Accession: SCV000783070.1
Submitted: (Jun 18, 2018)
Comment:
Drug is not necessarily used to treat response condition
Evidence details
Publications
PubMed (1)
Other databases
https://www.pharmgkb.org/clinica…
Comment:
PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or … (more)
Pathogenic
(Jul 31, 2020)
reviewed by expert panel
Method: research
Cystic fibrosis
Allele origin: germline
CFTR2
Accession: SCV001981553.1
Submitted: (Oct 19, 2021)
Evidence details
Other databases
https://cftr2.org
Pathogenic
(Nov 05, 2018)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: unknown
Mendelics
Accession: SCV000886299.1
Submitted: (Nov 11, 2018)
Evidence details
Likely pathogenic
(Jul 10, 2019)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: germline
Invitae
Accession: SCV001577106.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change replaces glutamic acid with lysine at codon 193 of the CFTR protein (p.Glu193Lys). The glutamic acid residue is moderately conserved and there … (more)
not provided
(-)
no assertion provided
Method: literature only
CFTR-related disorders
Allele origin: germline
ClinVar Staff, National Center for Biotechnology Information (NCBI)
Accession: SCV000679503.1
Submitted: (Mar 30, 2013)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. Van Goor F Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2014 PMID: 23891399
Mutation-specific potency and efficacy of cystic fibrosis transmembrane conductance regulator chloride channel potentiators. Caputo A The Journal of pharmacology and experimental therapeutics 2009 PMID: 19491324
Disease-associated mutations in cytoplasmic loops 1 and 2 of cystic fibrosis transmembrane conductance regulator impede processing or opening of the channel. Seibert FS Biochemistry 1997 PMID: 9305991
Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations. Brancolini V Human genetics 1995 PMID: 7544319
Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. Mercier B American journal of human genetics 1995 PMID: 7529962
https://cftr2.org - - - -
https://www.pharmgkb.org/clinicalAnnotation/1449191424 - - - -

Text-mined citations for rs397508759...

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These 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 Oct 21, 2021