Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Benign(5);Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
8 (Most recent: Aug 5, 2021)
Last evaluated:
Oct 19, 2020
Accession:
VCV000324546.6
Variation ID:
324546
Description:
single nucleotide variant
Help

NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys)

Allele ID
346790
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q23.3
Genomic location
17: 63966224 (GRCh38) GRCh38 UCSC
17: 62043584 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.62043584C>T
NC_000017.11:g.63966224C>T
NG_011699.1:g.11695G>A
NM_000334.4:c.1120G>A MANE Select NP_000325.4:p.Glu374Lys missense
Protein change
E374K
Other names
-
Canonical SPDI
NC_000017.11:63966223:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00009
The Genome Aggregation Database (gnomAD) 0.00013
The Genome Aggregation Database (gnomAD), exomes 0.00015
Trans-Omics for Precision Medicine (TOPMed) 0.00007
Exome Aggregation Consortium (ExAC) 0.00024
Trans-Omics for Precision Medicine (TOPMed) 0.00006
Links
ClinGen: CA8709918
dbSNP: rs766463226
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000288041.2
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000291434.2
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000345383.2
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV000348654.2
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000383669.2
Benign 1 criteria provided, single submitter Aug 20, 2020 RCV001288735.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Oct 19, 2020 RCV000945786.3
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SCN4A - - GRCh38
GRCh37
354 1081

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Dec 10, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001091838.1
Submitted: (Mar 14, 2019)
Evidence details
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Hypokalemic periodic paralysis, type 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000405298.3
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)
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Familial hyperkalemic periodic paralysis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000405297.3
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)
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Paramyotonia congenita of von Eulenburg
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000405296.3
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)
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Potassium-aggravated myotonia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000405299.3
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
Congenital myasthenic syndrome, acetazolamide-responsive
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000405300.3
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)
Benign
(Aug 20, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001476050.1
Submitted: (Dec 30, 2020)
Evidence details
Uncertain significance
(Oct 19, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001769861.1
Submitted: (Aug 05, 2021)
Evidence details
Comment:
In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

Functional evidence

Help
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

Help
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 rs766463226...

Help
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 Nov 27, 2021