NM_176801.2(ADD1):c.1378G>T (p.Gly460Trp) AND furosemide and spironolactone response - Efficacy

Clinical significance:drug response (Last evaluated: Oct 14, 2015)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000211330.1

Allele description [Variation Report for NM_176801.2(ADD1):c.1378G>T (p.Gly460Trp)]

NM_176801.2(ADD1):c.1378G>T (p.Gly460Trp)

Gene:
ADD1:adducin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.3
Genomic location:
Preferred name:
NM_176801.2(ADD1):c.1378G>T (p.Gly460Trp)
HGVS:
  • NC_000004.12:g.2904980G>T
  • NG_012037.1:g.66124G>T
  • NM_176801.2:c.1378G>T
  • NP_789771.1:p.Gly460Trp
  • NC_000004.11:g.2906707G>T
  • P35611:p.Gly460Trp
Protein change:
G460W; GLY460TRP
Links:
PharmGKB Clinical Annotation: 981202806; UniProtKB: P35611#VAR_014184; OMIM: 102680.0001; dbSNP: rs4961
NCBI 1000 Genomes Browser:
rs4961
Molecular consequence:
  • NM_176801.2:c.1378G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
furosemide and spironolactone response - Efficacy
Identifiers:
MedGen: CN236476

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000268361PharmGKBreviewed by expert panel
drug response
(Oct 14, 2015)
Condition: furosemide and spironolactone response - Efficacy
Drug reported used for: Liver Cirrhosis
germlinecuration

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Description

Drug is not necessarily used to treat response condition

SCV000268361

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Identification of diuretic non-responders with poor long-term clinical outcomes: a 1-year follow-up of 176 non-azotaemic cirrhotic patients with moderate ascites.

Yang YY, Lin HC, Lin MW, Chu CJ, Lee FY, Hou MC, Lee SD, Lee WP, Liu TT, Jap TS.

Clin Sci (Lond). 2011 Dec;121(11):509-21. doi: 10.1042/CS20110018.

PubMed [citation]
PMID:
21692745

Pharmacogenomics knowledge for personalized medicine.

Whirl-Carrillo M, McDonagh EM, Hebert JM, Gong L, Sangkuhl K, Thorn CF, Altman RB, Klein TE.

Clin Pharmacol Ther. 2012 Oct;92(4):414-7. doi: 10.1038/clpt.2012.96. Review.

PubMed [citation]
PMID:
22992668
PMCID:
PMC3660037

Details of each submission

From PharmGKB, SCV000268361.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

Description

PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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