NM_000335.5(SCN5A):c.1712G>T (p.Ser571Ile) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 29, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV003654191.2

Allele description

NM_000335.5(SCN5A):c.1712G>T (p.Ser571Ile)

Gene:

SCN5A:sodium voltage-gated channel alpha subunit 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000335.5(SCN5A):c.1712G>T (p.Ser571Ile)

HGVS:

NC_000003.12:g.38603890C>A
NG_008934.1:g.50783G>T
NM_000335.5:c.1712G>TMANE SELECT
NM_001099404.2:c.1712G>T
NM_001099405.2:c.1712G>T
NM_001160160.2:c.1712G>T
NM_001160161.2:c.1712G>T
NM_001354701.2:c.1712G>T
NM_198056.3:c.1712G>T
NP_000326.2:p.Ser571Ile
NP_000326.2:p.Ser571Ile
NP_001092874.1:p.Ser571Ile
NP_001092875.1:p.Ser571Ile
NP_001153632.1:p.Ser571Ile
NP_001153633.1:p.Ser571Ile
NP_001341630.1:p.Ser571Ile
NP_932173.1:p.Ser571Ile
NP_932173.1:p.Ser571Ile
LRG_289t1:c.1712G>T
LRG_289t2:c.1712G>T
LRG_289:g.50783G>T
LRG_289p1:p.Ser571Ile
LRG_289p2:p.Ser571Ile
NC_000003.11:g.38645381C>A
NM_000335.4:c.1712G>T
NM_198056.2:c.1712G>T
Q14524:p.Ser571Ile

Protein change:

S571I

Links:

UniProtKB: Q14524#VAR_074715; dbSNP: rs199473126

NCBI 1000 Genomes Browser:

rs199473126

Molecular consequence:

NM_000335.5:c.1712G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001099404.2:c.1712G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001099405.2:c.1712G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001160160.2:c.1712G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001160161.2:c.1712G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354701.2:c.1712G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_198056.3:c.1712G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000960260	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 29, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 19716085, 25904541, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000960260

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 29, 2023)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

Kapplinger JD, Tester DJ, Salisbury BA, Carr JL, Harris-Kerr C, Pollevick GD, Wilde AA, Ackerman MJ.

Heart Rhythm. 2009 Sep;6(9):1297-303. doi: 10.1016/j.hrthm.2009.05.021. Epub 2009 Jun 23.

PubMed [citation]

PMID:: 19716085
PMCID:: PMC3049907

Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.

Kapplinger JD, Giudicessi JR, Ye D, Tester DJ, Callis TE, Valdivia CR, Makielski JC, Wilde AA, Ackerman MJ.

Circ Cardiovasc Genet. 2015 Aug;8(4):582-95. doi: 10.1161/CIRCGENETICS.114.000831. Epub 2015 Apr 22.

PubMed [citation]

PMID:: 25904541
PMCID:: PMC4878676

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV000960260.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 571 of the SCN5A protein (p.Ser571Ile). This variant is present in population databases (rs199473126, gnomAD 0.02%). This missense change has been observed in individual(s) with long QT syndrome (PMID: 19716085, 25904541). ClinVar contains an entry for this variant (Variation ID: 67681). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant¬†is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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