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NM_198056.2(SCN5A):c.1705C>G (p.Arg569Gly)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: May 19, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000201576.3
Variation ID:
201576
Description:
single nucleotide variant
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NM_198056.2(SCN5A):c.1705C>G (p.Arg569Gly)

Allele ID
196972
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p22.2
Genomic location
3: 38603897 (GRCh38) GRCh38 UCSC
3: 38645388 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_289t1:c.1705C>G LRG_289p1:p.Arg569Gly
LRG_289t2:c.1705C>G LRG_289p2:p.Arg569Gly
NC_000003.11:g.38645388G>C
... more HGVS
Protein change
R569G
Other names
p.R569G:CGG>GGG
Canonical SPDI
NC_000003.12:38603896:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA015193
dbSNP: rs199473576
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 Dec 20, 2016 RCV000183172.2
Uncertain significance 1 criteria provided, single submitter Dec 31, 2019 RCV001182790.1
Likely pathogenic 1 no assertion criteria provided Jul 14, 2017 RCV000656205.1
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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
2344 2596

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 20, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000235589.10
Submitted: (Jan 29, 2019)
Evidence details
Comment:
A variant of uncertain significance has been identified in the SCN5A gene. The R569G variant has been published in one patient referred for LQTS testing … (more)
Uncertain significance
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
Arrhythmia
Allele origin: germline
Color Health, Inc
Accession: SCV001348371.1
Submitted: (May 19, 2020)
Comment:
This missense variant replaces arginine with glycine at codon 569 of the SCN5A protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
Evidence details
Likely pathogenic
(Jul 14, 2017)
no assertion criteria provided
Method: research
Wolff-Parkinson-White pattern
Allele origin: unknown
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
Study: Candidate_variants_in_patients_with_ Wolff-Parkinson-White Syndrome
Accession: SCV000678399.1
Submitted: (Aug 26, 2017)
Evidence details
Comment:
This variant was identified in an individual with Wolff-Parkinson-White syndrome

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 rs199473576...

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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 06, 2021