NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Dec 16, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000725885.3

Allele description [Variation Report for NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys)]

NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys)

Gene:
KCNJ10:potassium inwardly rectifying channel subfamily J member 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.2
Genomic location:
Preferred name:
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys)
HGVS:
  • NC_000001.11:g.160041491G>A
  • NG_016411.1:g.33681C>T
  • NM_002241.5:c.1042C>TMANE SELECT
  • NP_002232.2:p.Arg348Cys
  • NC_000001.10:g.160011281G>A
  • NM_002241.4:c.1042C>T
  • p.Arg348Cys
Protein change:
R348C; ARG348CYS
Links:
OMIM: 602208.0009; dbSNP: rs137853074
NCBI 1000 Genomes Browser:
rs137853074
Molecular consequence:
  • NM_002241.5:c.1042C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000340249EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Mar 24, 2016)
germlineclinical testing

Citation Link,

SCV001713902Mayo Clinic Laboratories, Mayo Cliniccriteria provided, single submitter
Uncertain significance
(Dec 16, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001802828GeneDxno assertion criteria provided
Uncertain significance
(Apr 8, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000340249.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV001713902.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001802828.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Identified as heterozygous variant in individuals with enlargement of the vestibular aqueduct; however, biallelic pathogenic variants in the SLC26A4 gene were also identified in each individual (Zhao et al., 2014; Lin et al., 2019); Identified as heterozygous variant in an individual with enlargement of the vestibular aqueduct/Pendred syndrome; however one pathogenic variant in the SLC26A4 gene was also identified (Yang et al., 2009); Published functional studies demonstrate a damaging effect, as R348C reduces K+ channel conductance activity (Yang et al., 2009); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 19426954, 25372295, 31243244, 30733538, 30268946)

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

Last Updated: Sep 6, 2021

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