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NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
9 (Most recent: Sep 30, 2021)
Last evaluated:
Dec 5, 2020
Accession:
VCV000139072.14
Variation ID:
139072
Description:
single nucleotide variant
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NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=)

Allele ID
142775
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.13
Genomic location
12: 51780651 (GRCh38) GRCh38 UCSC
12: 52174435 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.52174435C>T
NC_000012.12:g.51780651C>T
NG_021180.3:g.195694C>T
... more HGVS
Protein change
-
Other names
p.V1274V:GTC>GTT
Canonical SPDI
NC_000012.12:51780650:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (T)

Allele frequency
1000 Genomes Project 0.00080
The Genome Aggregation Database (gnomAD) 0.00083
The Genome Aggregation Database (gnomAD), exomes 0.00180
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00158
Exome Aggregation Consortium (ExAC) 0.00390
Links
ClinGen: CA293424
dbSNP: rs187327463
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Jan 16, 2018 RCV000127997.4
Likely benign 1 criteria provided, single submitter Oct 12, 2016 RCV000717226.1
Benign 3 criteria provided, single submitter Dec 27, 2017 RCV000713154.6
Likely benign 1 criteria provided, single submitter May 28, 2019 RCV000988847.1
Benign 1 criteria provided, single submitter Dec 5, 2020 RCV001085099.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SCN8A No evidence available No evidence available GRCh38
GRCh37
1044 1112

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Feb 10, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000171587.12
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Dec 27, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000843733.1
Submitted: (Aug 31, 2018)
Evidence details
Likely benign
(Jan 16, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000858975.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Early infantile epileptic encephalopathy 13
Allele origin: unknown
Mendelics
Accession: SCV001138736.1
Submitted: (Oct 22, 2019)
Evidence details
Likely benign
(Oct 12, 2016)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000848075.4
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Benign
(Dec 05, 2020)
criteria provided, single submitter
Method: clinical testing
Early infantile epileptic encephalopathy with suppression bursts
Allele origin: germline
Invitae
Accession: SCV000289939.7
Submitted: (Jan 07, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001742116.3
Submitted: (Sep 02, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001955888.1
Submitted: (Sep 30, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001968421.1
Submitted: (Sep 21, 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SCN8A - - - -

Text-mined citations for rs187327463...

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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 Nov 20, 2021