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NM_198056.2(SCN5A):c.612-229T>G

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Pathogenic(5)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: May 19, 2020)
Last evaluated:
Nov 11, 2018
Accession:
VCV000587531.3
Variation ID:
587531
Description:
single nucleotide variant
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NM_198056.2(SCN5A):c.612-229T>G

Allele ID
578417
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p22.2
Genomic location
3: 38614063 (GRCh38) GRCh38 UCSC
3: 38655554 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_289:g.40610T>G
LRG_289t1:c.612-229T>G
LRG_289t3:c.615T>G LRG_289p3:p.Tyr205Ter
... more HGVS
Protein change
Y205*
Other names
-
Canonical SPDI
NC_000003.12:38614062:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Links
dbSNP: rs765669597
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Aug 7, 2018 RCV000714738.2
Pathogenic 1 criteria provided, single submitter Aug 7, 2018 RCV000714737.2
Pathogenic 1 criteria provided, single submitter Aug 7, 2018 RCV000714739.2
Pathogenic 1 criteria provided, single submitter Aug 7, 2018 RCV000714740.2
Pathogenic 1 criteria provided, single submitter Aug 7, 2018 RCV000714741.2
Likely benign 1 criteria provided, single submitter Nov 11, 2018 RCV001182579.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SCN5A Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
2348 2600

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 07, 2018)
criteria provided, single submitter
Method: clinical testing
Brugada syndrome 1
Allele origin: unknown
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000845465.1
Submitted: (Aug 07, 2018)
Evidence details
Pathogenic
(Aug 07, 2018)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 10
Allele origin: unknown
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000845466.1
Submitted: (Aug 07, 2018)
Evidence details
Pathogenic
(Aug 07, 2018)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1E
Allele origin: unknown
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000845467.1
Submitted: (Aug 07, 2018)
Evidence details
Pathogenic
(Aug 07, 2018)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome 3
Allele origin: unknown
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000845468.1
Submitted: (Aug 07, 2018)
Evidence details
Pathogenic
(Aug 07, 2018)
criteria provided, single submitter
Method: clinical testing
SCN5A-Related Disorders
Allele origin: unknown
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000845469.1
Submitted: (Aug 07, 2018)
Evidence details
Likely benign
(Nov 11, 2018)
criteria provided, single submitter
Method: clinical testing
Arrhythmia
Allele origin: germline
Color Health, Inc
Accession: SCV001348090.1
Submitted: (May 19, 2020)
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 rs765669597...

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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 Sep 07, 2021