NM_153766.3(KCNJ1):c.874C>T (p.Arg292Trp) AND Bartter syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 3, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002469957.1

Allele description [Variation Report for NM_153766.3(KCNJ1):c.874C>T (p.Arg292Trp)]

NM_153766.3(KCNJ1):c.874C>T (p.Arg292Trp)

Gene:
KCNJ1:potassium inwardly rectifying channel subfamily J member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q24.3
Genomic location:
Preferred name:
NM_153766.3(KCNJ1):c.874C>T (p.Arg292Trp)
HGVS:
  • NC_000011.10:g.128839370G>A
  • NG_009379.1:g.33004C>T
  • NM_000220.6:c.931C>T
  • NM_153764.3:c.874C>T
  • NM_153765.3:c.925C>T
  • NM_153766.3:c.874C>TMANE SELECT
  • NM_153767.4:c.874C>T
  • NP_000211.1:p.Arg311Trp
  • NP_722448.1:p.Arg292Trp
  • NP_722449.3:p.Arg309Trp
  • NP_722450.1:p.Arg292Trp
  • NP_722451.1:p.Arg292Trp
  • NC_000011.9:g.128709265G>A
  • NM_000220.4:c.931C>T
Protein change:
R292W
Molecular consequence:
  • NM_000220.6:c.931C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153764.3:c.874C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153765.3:c.925C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153766.3:c.874C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153767.4:c.874C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Bartter syndrome
Synonyms:
Bartter's syndrome; Potassium wasting
Identifiers:
MONDO: MONDO:0015231; MedGen: C0004775; OMIM: PS601678

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002765970Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(Nov 3, 2022) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.

Brochard K, Boyer O, Blanchard A, Loirat C, Niaudet P, Macher MA, Deschenes G, Bensman A, Decramer S, Cochat P, Morin D, Broux F, Caillez M, Guyot C, Novo R, Jeunemaître X, Vargas-Poussou R.

Nephrol Dial Transplant. 2009 May;24(5):1455-64. doi: 10.1093/ndt/gfn689. Epub 2008 Dec 18.

PubMed [citation]
PMID:
19096086

Rare independent mutations in renal salt handling genes contribute to blood pressure variation.

Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB, Newton-Cheh C, State MW, Levy D, Lifton RP.

Nat Genet. 2008 May;40(5):592-599. doi: 10.1038/ng.118. Epub 2008 Apr 6.

PubMed [citation]
PMID:
18391953
PMCID:
PMC3766631
See all PubMed Citations (6)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002765970.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

Variant summary: KCNJ1 c.931C>T (p.Arg311Trp) results in a non-conservative amino acid change located in the inward rectifier potassium channel, C-terminal domain (IPR041647) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 3.2e-05 in 251160 control chromosomes (gnomAD). c.931C>T has been reported in the literature in individuals affected with Bartter Syndrome, Type 2 (examples: Schulte_1999, Ji_2008, Brochard_2009, Lee_2012, and Zuo_2020). These data indicate that the variant is likely to be associated with disease. Multiple publications reported experimental evidence that this variant abolishes the normal protein function (examples: Schulte_1999 and Peters_2003). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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

Last Updated: Sep 29, 2024