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NM_000218.3(KCNQ1):c.900A>C (p.Ala300=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(3);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
8 (Most recent: Sep 27, 2021)
Last evaluated:
Oct 21, 2020
Accession:
VCV000179293.7
Variation ID:
179293
Description:
single nucleotide variant
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NM_000218.3(KCNQ1):c.900A>C (p.Ala300=)

Allele ID
175702
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 2572965 (GRCh38) GRCh38 UCSC
11: 2594195 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000218.2:c.900A>C NP_000209.2:p.Ala300= synonymous
LRG_287:g.132975A>C
LRG_287t1:c.900A>C LRG_287p1:p.Ala300=
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:2572964:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00010
Trans-Omics for Precision Medicine (TOPMed) 0.00004
Exome Aggregation Consortium (ExAC) 0.00005
Links
ClinGen: CA008569
dbSNP: rs727504769
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Sep 10, 2013 RCV000156082.1
Likely benign 1 criteria provided, single submitter Oct 21, 2020 RCV000227118.5
Uncertain significance 1 criteria provided, single submitter Jun 12, 2018 RCV001104724.1
Uncertain significance 1 criteria provided, single submitter Jun 12, 2018 RCV001104725.1
Uncertain significance 1 criteria provided, single submitter Jun 12, 2018 RCV001104726.1
Uncertain significance 1 criteria provided, single submitter Jun 12, 2018 RCV001104723.1
Likely benign 1 criteria provided, single submitter Dec 3, 2018 RCV001177332.1
Benign 1 criteria provided, single submitter Mar 3, 2015 RCV001711425.1
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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

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 12, 2018)
criteria provided, single submitter
Method: clinical testing
Short QT syndrome 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001261609.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Jun 12, 2018)
criteria provided, single submitter
Method: clinical testing
Jervell and Lange-Nielsen syndrome 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001261610.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Jun 12, 2018)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001261611.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Jun 12, 2018)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001261612.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Likely benign
(Sep 10, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000205795.4
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Ala300Ala in Exon 6 of KCNQ1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue … (more)
Likely benign
(Dec 03, 2018)
criteria provided, single submitter
Method: clinical testing
Arrhythmia
Allele origin: germline
Color Health, Inc
Accession: SCV001341527.1
Submitted: (May 19, 2020)
Evidence details
Likely benign
(Oct 21, 2020)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV000283885.6
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001940538.1
Submitted: (Sep 27, 2021)
Evidence details

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 rs727504769...

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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 02, 2021