U.S. flag

An official website of the United States government

NM_000335.5(SCN5A):c.5375T>A (p.Met1792Lys) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 28, 2019
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:
RCV000618711.3

Allele description [Variation Report for NM_000335.5(SCN5A):c.5375T>A (p.Met1792Lys)]

NM_000335.5(SCN5A):c.5375T>A (p.Met1792Lys)

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.5375T>A (p.Met1792Lys)
Other names:
p.M1793K:ATG>AAG
HGVS:
  • NC_000003.12:g.38550994A>T
  • NG_008934.1:g.103679T>A
  • NM_000335.5:c.5375T>AMANE SELECT
  • NM_001099404.2:c.5378T>A
  • NM_001099405.2:c.5324T>A
  • NM_001160160.2:c.5279T>A
  • NM_001160161.2:c.5216T>A
  • NM_001354701.2:c.5321T>A
  • NM_198056.3:c.5378T>A
  • NP_000326.2:p.Met1792Lys
  • NP_001092874.1:p.Met1793Lys
  • NP_001092875.1:p.Met1775Lys
  • NP_001153632.1:p.Met1760Lys
  • NP_001153633.1:p.Met1739Lys
  • NP_001341630.1:p.Met1774Lys
  • NP_932173.1:p.Met1793Lys
  • NP_932173.1:p.Met1793Lys
  • LRG_289t1:c.5378T>A
  • LRG_289:g.103679T>A
  • LRG_289p1:p.Met1793Lys
  • NC_000003.11:g.38592485A>T
  • NM_198056.2:c.5378T>A
Protein change:
M1739K
Links:
dbSNP: rs794728897
NCBI 1000 Genomes Browser:
rs794728897
Molecular consequence:
  • NM_000335.5:c.5375T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.5378T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.5324T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.5279T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.5216T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.5321T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.5378T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000737888Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 28, 2019) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups.

Baruteau AE, Kyndt F, Behr ER, Vink AS, Lachaud M, Joong A, Schott JJ, Horie M, Denjoy I, Crotti L, Shimizu W, Bos JM, Stephenson EA, Wong L, Abrams DJ, Davis AM, Winbo A, Dubin AM, Sanatani S, Liberman L, Kaski JP, Rudic B, et al.

Eur Heart J. 2018 Aug 14;39(31):2879-2887. doi: 10.1093/eurheartj/ehy412.

PubMed [citation]
PMID:
30059973

Details of each submission

From Ambry Genetics, SCV000737888.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.M1793K variant (also known as c.5378T>A), located in coding exon 27 of the SCN5A gene, results from a T to A substitution at nucleotide position 5378. The methionine at codon 1793 is replaced by lysine, an amino acid with similar properties, and is located in the C-terminal region. This variant was reported in a cohort of pediatric patients with variants in SCN5A; however, clinical details were limited (Baruteau AE et al. Eur. Heart J. 2018 Aug;39(31):2879-2887). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024