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NM_153766.3(KCNJ1):c.887T>G (p.Val296Gly) AND Bartter syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 5, 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:
RCV002240079.1

Allele description [Variation Report for NM_153766.3(KCNJ1):c.887T>G (p.Val296Gly)]

NM_153766.3(KCNJ1):c.887T>G (p.Val296Gly)

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.887T>G (p.Val296Gly)
HGVS:
  • NC_000011.10:g.128839357A>C
  • NG_009379.1:g.33017T>G
  • NM_000220.6:c.944T>G
  • NM_153764.3:c.887T>G
  • NM_153765.3:c.938T>G
  • NM_153766.3:c.887T>GMANE SELECT
  • NM_153767.4:c.887T>G
  • NP_000211.1:p.Val315Gly
  • NP_722448.1:p.Val296Gly
  • NP_722449.3:p.Val313Gly
  • NP_722450.1:p.Val296Gly
  • NP_722451.1:p.Val296Gly
  • NC_000011.9:g.128709252A>C
  • NM_000220.4:c.944T>G
Protein change:
V296G
Links:
dbSNP: rs753949204
NCBI 1000 Genomes Browser:
rs753949204
Molecular consequence:
  • NM_000220.6:c.944T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153764.3:c.887T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153765.3:c.938T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153766.3:c.887T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153767.4:c.887T>G - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002511428Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Pathogenic
(Apr 5, 2022)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

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

Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function.

Derst C, Konrad M, Köckerling A, Károlyi L, Deschenes G, Daut J, Karschin A, Seyberth HW.

Biochem Biophys Res Commun. 1997 Jan 23;230(3):641-5.

PubMed [citation]
PMID:
9015377
See all PubMed Citations (5)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002511428.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

Variant summary: KCNJ1 c.944T>G (p.Val315Gly) results in a non-conservative amino acid change located in the Inward rectifier potassium channel, C-terminal domain 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 4e-06 in 251166 control chromosomes. c.944T>G has been reported in the literature in multiple individuals affected with Bartter Syndrome, Type 2 including homozygous and compound heterozygous individuals (Karolyi_1997, Borchard_2009, Fretzayas_2013). These data indicate that the variant is very likely to be associated with disease. Expression studies showed that the variant lies adjacent to the cAMP-dependent PKA phosphorylation domain in the C-terminal part of the protein and results in an impaired K+ trafficking (Derst_1997). 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