NM_000085.5(CLCNKB):c.1631_1632delinsAT (p.Arg544His) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 24, 2017
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:: RCV000518532.1

Allele description [Variation Report for NM_000085.5(CLCNKB):c.1631_1632delinsAT (p.Arg544His)]

NM_000085.5(CLCNKB):c.1631_1632delinsAT (p.Arg544His)

Genes:

LOC106501713:CLCNKB recombination region [Gene]
CLCNKB:chloride voltage-gated channel Kb [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

1p36.13

Genomic location:

Preferred name:

NM_000085.5(CLCNKB):c.1631_1632delinsAT (p.Arg544His)

HGVS:

NC_000001.11:g.16053647_16053648delinsAT
NG_013079.1:g.14896_14897delinsAT
NG_042865.1:g.9155_9156delinsAT
NM_000085.5:c.1631_1632delinsATMANE SELECT
NM_001165945.2:c.1124_1125delinsAT
NP_000076.2:p.Arg544His
NP_001159417.2:p.Arg375His
NC_000001.10:g.16380142_16380143delinsAT
NM_000085.3:c.1631_1632delinsAT
p.ARG544HIS

Protein change:

R375H

Links:

dbSNP: rs1553128179

NCBI 1000 Genomes Browser:

rs1553128179

Molecular consequence:

NM_000085.5:c.1631_1632delinsAT - missense variant - [Sequence Ontology: SO:0001583]
NM_001165945.2:c.1124_1125delinsAT - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000612825	Athena Diagnostics Inc	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Apr 24, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 15851323, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000612825

Athena Diagnostics Inc

criteria provided, single submitter

(Athena Diagnostics Criteria)

Uncertain significance
(Apr 24, 2017)

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

Congenital long QT syndrome aggravated by salt-wasting nephropathy.

Darbar D, Sile S, Fish FA, George AL Jr.

Heart Rhythm. 2005 Mar;2(3):304-6. No abstract available.

PubMed [citation]

PMID:: 15851323
PMCID:: PMC1350445

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Athena Diagnostics Inc, SCV000612825.1

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

#	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: Feb 28, 2024

ClinVar

Relating variation to medicine