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NM_000335.5(SCN5A):c.4708T>C (p.Phe1570Leu) AND Brugada syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 31, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001030819.1

Allele description [Variation Report for NM_000335.5(SCN5A):c.4708T>C (p.Phe1570Leu)]

NM_000335.5(SCN5A):c.4708T>C (p.Phe1570Leu)

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.4708T>C (p.Phe1570Leu)
HGVS:
  • NC_000003.12:g.38554381A>G
  • NG_008934.1:g.100292T>C
  • NM_000335.5:c.4708T>CMANE SELECT
  • NM_001099404.2:c.4711T>C
  • NM_001099405.2:c.4657T>C
  • NM_001160160.2:c.4708T>C
  • NM_001160161.2:c.4549T>C
  • NM_001354701.2:c.4654T>C
  • NM_198056.3:c.4711T>C
  • NP_000326.2:p.Phe1570Leu
  • NP_001092874.1:p.Phe1571Leu
  • NP_001092874.1:p.Phe1571Leu
  • NP_001092875.1:p.Phe1553Leu
  • NP_001153632.1:p.Phe1570Leu
  • NP_001153633.1:p.Phe1517Leu
  • NP_001341630.1:p.Phe1552Leu
  • NP_932173.1:p.Phe1571Leu
  • LRG_289t3:c.4711T>C
  • LRG_289:g.100292T>C
  • LRG_289p3:p.Phe1571Leu
  • NC_000003.11:g.38595872A>G
  • NM_001099404.1:c.4711T>C
  • p.F1571L
  • p.Phe1571Leu
Protein change:
F1517L
Links:
dbSNP: rs1369632373
NCBI 1000 Genomes Browser:
rs1369632373
Molecular consequence:
  • NM_000335.5:c.4708T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.4711T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.4657T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.4708T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.4549T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.4654T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.4711T>C - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
protein loss of function [Variation Ontology: 0043]

Condition(s)

Name:
Brugada syndrome
Synonyms:
Sudden unexpected nocturnal death syndrome; Sudden unexplained nocturnal death syndrome; Sudden Unexplained Death Syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015263; MedGen: C1142166; OMIM: PS601144

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001190331Centre of Medical Genetics, University of Antwerp
no assertion criteria provided
Likely pathogenic
(Jul 31, 2019) 		de novo, not applicableresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedresearch
not providednot applicablenot applicablenot providednot providednot providednot providednot providedresearch

Details of each submission

From Centre of Medical Genetics, University of Antwerp, SCV001190331.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearchnot provided
2not providednot providednot providednot providedresearchnot provided

Description

p.Phe1571Leu variant was identified in a severe compound heterozygous mutation carrier together with c.4813+3_4813+6dupGGGT variant. The patient was diagnosed with Brugada syndrome, initially presenting sick sinus syndrome and junctional escape. Performed in vitro functional studies indicated reduction in availability of the channel protein due to hyperpolarizing shift in voltage dependence of channel inactivation, which explained severity of the phenotype in this case.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided
2not applicablenot applicablenot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 26, 2023