NM_153766.3(KCNJ1):c.578G>C (p.Arg193Pro) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 28, 2021
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:: RCV001048496.7

Allele description [Variation Report for NM_153766.3(KCNJ1):c.578G>C (p.Arg193Pro)]

NM_153766.3(KCNJ1):c.578G>C (p.Arg193Pro)

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.578G>C (p.Arg193Pro)

HGVS:

NC_000011.10:g.128839666C>G
NG_009379.1:g.32708G>C
NM_000220.6:c.635G>C
NM_153764.3:c.578G>C
NM_153765.3:c.629G>C
NM_153766.3:c.578G>CMANE SELECT
NM_153767.4:c.578G>C
NP_000211.1:p.Arg212Pro
NP_722448.1:p.Arg193Pro
NP_722449.3:p.Arg210Pro
NP_722450.1:p.Arg193Pro
NP_722451.1:p.Arg193Pro
NC_000011.9:g.128709561C>G
NM_000220.4:c.635G>C

Protein change:

R193P

Links:

dbSNP: rs150299230

NCBI 1000 Genomes Browser:

rs150299230

Molecular consequence:

NM_000220.6:c.635G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_153764.3:c.578G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_153765.3:c.629G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_153766.3:c.578G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_153767.4:c.578G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Bacillus cereus strain AFS081512 AFS081512_109_G1_Contig121_140523, whole genome...
Bacillus cereus strain AFS081512 AFS081512_109_G1_Contig121_140523, whole genome shotgun sequence
gi|1267757533|ref|NZ_NUXB01000121.1 |WGS:NZ_NUXB01|AFS081512_109_G1_Contig121_140523

Nucleotide
BioProjects for Gene (Select 63027) (4)
BioProject
ZNF440 zinc finger protein 440 [Homo sapiens]
ZNF440 zinc finger protein 440 [Homo sapiens]
Gene ID:126070

Gene
Gene Links for GEO Profiles (Select 132282385) (1)
Gene
Gene Links for GEO Profiles (Select 45805761) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001212507	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 28, 2021)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 28630040, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001212507

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 28, 2021)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Endoplasmic reticulum-associated degradation of the renal potassium channel, ROMK, leads to type II Bartter syndrome.

O'Donnell BM, Mackie TD, Subramanya AR, Brodsky JL.

J Biol Chem. 2017 Aug 4;292(31):12813-12827. doi: 10.1074/jbc.M117.786376. Epub 2017 Jun 19.

PubMed [citation]

PMID:: 28630040
PMCID:: PMC5546024

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001212507.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 212 of the KCNJ1 protein (p.Arg212Pro). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with KCNJ1-related conditions. ClinVar contains an entry for this variant (Variation ID: 845433). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Experimental studies have shown that this missense change affects KCNJ1 function (PMID: 28630040). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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