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_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(3);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Sep 30, 2021)
Last evaluated:
Jun 7, 2021
Accession:
VCV000180521.9
Variation ID:
180521
Description:
2bp indel
Help

NM_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe)

Allele ID
178522
Variant type
Indel
Variant length
2 bp
Cytogenetic location
3p22.2
Genomic location
3: 38603887-38603888 (GRCh38) GRCh38 UCSC
3: 38645378-38645379 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.38645378_38645379delinsAA
NC_000003.12:g.38603887_38603888delinsAA
NG_008934.1:g.50785_50786delinsTT
... more HGVS
Protein change
A572F
Other names
p.A572F:GCC>TTC
Canonical SPDI
NC_000003.12:38603886:GC:AA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA015243
dbSNP: rs730880211
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Feb 21, 2019 RCV000618061.1
Likely benign 1 criteria provided, single submitter Nov 18, 2020 RCV001080833.2
Uncertain significance 1 criteria provided, single submitter Nov 25, 2020 RCV001191832.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jun 7, 2021 RCV000726236.4
Uncertain significance 1 no assertion criteria provided Mar 19, 2014 RCV000157498.1
Help
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
2366 2620

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 20, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000343113.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Feb 21, 2019)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000736007.3
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (2)
Comment:
In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Likely benign
(Nov 18, 2020)
criteria provided, single submitter
Method: clinical testing
Brugada syndrome
Allele origin: germline
Invitae
Accession: SCV000291782.7
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Nov 25, 2020)
criteria provided, single submitter
Method: clinical testing
Arrhythmia
Allele origin: germline
Color Health, Inc
Accession: SCV001359745.2
Submitted: (Jun 11, 2021)
Evidence details
Comment:
This missense variant replaces alanine with phenylalanine at codon 572 of the SCN5A protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
Likely benign
(Jun 07, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000235565.13
Submitted: (Sep 30, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 19862833, 18071069, 21109022, 23631430, 30847666)
Uncertain significance
(Mar 19, 2014)
no assertion criteria provided
Method: clinical testing
Primary familial hypertrophic cardiomyopathy
Allele origin: germline
Blueprint Genetics
Accession: SCV000207243.1
Submitted: (Feb 02, 2015)
Evidence details

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
Title Author Journal Year Link
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Lieve KV Genetic testing and molecular biomarkers 2013 PMID: 23631430
Cardiac sodium channel gene variants and sudden cardiac death in women. Albert CM Circulation 2008 PMID: 18071069
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SCN5A - - - -

Text-mined citations for rs730880211...

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