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NM_000218.3(KCNQ1):c.644T>G (p.Val215Gly)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Nov 14, 2018)
Last evaluated:
Oct 31, 2018
Accession:
VCV000456868.1
Variation ID:
456868
Description:
single nucleotide variant
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NM_000218.3(KCNQ1):c.644T>G (p.Val215Gly)

Allele ID
461128
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 2571364 (GRCh38) GRCh38 UCSC
11: 2592594 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000218.2:c.644T>G NP_000209.2:p.Val215Gly missense
LRG_287:g.131374T>G
LRG_287t1:c.644T>G LRG_287p1:p.Val215Gly
... more HGVS
Protein change
V215G, V88G
Other names
-
Canonical SPDI
NC_000011.10:2571363:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA039326
dbSNP: rs368011737
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 Mar 13, 2017 RCV000559784.1
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000764972.1
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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
(Mar 13, 2017)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV000627396.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces valine with glycine at codon 215 of the KCNQ1 protein (p.Val215Gly). The valine residue is highly conserved and there is a … (more)
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Beckwith-Wiedemann syndrome
Long QT syndrome 1
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Short QT syndrome 2
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000896149.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30

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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Title Author Journal Year Link
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 Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Text-mined citations for rs368011737...

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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