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NM_000218.3(KCNQ1):c.*47A>C

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
5 (Most recent: Feb 20, 2020)
Last evaluated:
Jan 12, 2018
Accession:
VCV000304233.3
Variation ID:
304233
Description:
single nucleotide variant
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NM_000218.3(KCNQ1):c.*47A>C

Allele ID
327131
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.4
Genomic location
11: 2848050 (GRCh38) GRCh38 UCSC
11: 2869280 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_287:g.408060A>C
LRG_287t1:c.*47A>C
LRG_287t2:c.*47A>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:2848049:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00010
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA037899
dbSNP: rs754931159
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000286698.2
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV000296844.2
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV000338318.2
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV000341725.2
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV000403539.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KCNQ1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh37
1161 1427
KCNQ1-AS1 - - - GRCh38
GRCh38
- 167

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Romano-Ward Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000370419.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Jervell and Lange-Nielsen syndrome 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000370421.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000370422.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Short QT syndrome 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000370420.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000370423.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs754931159...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021