NM_000335.5(SCN5A):c.4061T>C (p.Leu1354Pro) AND Dilated cardiomyopathy 1E

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 25, 2022
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:: RCV002286835.1

Allele description [Variation Report for NM_000335.5(SCN5A):c.4061T>C (p.Leu1354Pro)]

NM_000335.5(SCN5A):c.4061T>C (p.Leu1354Pro)

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.4061T>C (p.Leu1354Pro)

HGVS:

NC_000003.12:g.38560328A>G
NG_008934.1:g.94345T>C
NM_000335.5:c.4061T>CMANE SELECT
NM_001099404.2:c.4064T>C
NM_001099405.2:c.4064T>C
NM_001160160.2:c.4061T>C
NM_001160161.2:c.3902T>C
NM_001354701.2:c.4061T>C
NM_198056.3:c.4064T>C
NP_000326.2:p.Leu1354Pro
NP_001092874.1:p.Leu1355Pro
NP_001092875.1:p.Leu1355Pro
NP_001153632.1:p.Leu1354Pro
NP_001153633.1:p.Leu1301Pro
NP_001341630.1:p.Leu1354Pro
NP_932173.1:p.Leu1355Pro
LRG_289:g.94345T>C
NC_000003.11:g.38601819A>G

Protein change:

L1301P

Links:

dbSNP: rs2061232697

NCBI 1000 Genomes Browser:

rs2061232697

Molecular consequence:

NM_000335.5:c.4061T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001099404.2:c.4064T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001099405.2:c.4064T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001160160.2:c.4061T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001160161.2:c.3902T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354701.2:c.4061T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_198056.3:c.4064T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Dilated cardiomyopathy 1E (CMD1E)
Synonyms:: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA; SCN5A-Associated Dilated Cardiomyopathy
Identifiers:: MONDO: MONDO:0011003; MedGen: C1832680; Orphanet: 154; OMIM: 601154

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002577455	Laboratory of Medical Genetics, National & Kapodistrian University of Athens	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 25, 2022)	maternal	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002577455

Laboratory of Medical Genetics, National & Kapodistrian University of Athens

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 25, 2022)

maternal

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV002577455.1

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

Description

PM1, PM2, PP3

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

Last Updated: Jun 29, 2024

ClinVar

Relating variation to medicine