NM_000335.5(SCN5A):c.235C>G (p.Pro79Ala) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 17, 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:: RCV003166984.2

Allele description [Variation Report for NM_000335.5(SCN5A):c.235C>G (p.Pro79Ala)]

NM_000335.5(SCN5A):c.235C>G (p.Pro79Ala)

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.235C>G (p.Pro79Ala)

HGVS:

NC_000003.12:g.38633073G>C
NG_008934.1:g.21600C>G
NM_000335.5:c.235C>GMANE SELECT
NM_001099404.2:c.235C>G
NM_001099405.2:c.235C>G
NM_001160160.2:c.235C>G
NM_001160161.2:c.235C>G
NM_001354701.2:c.235C>G
NM_198056.2:c.235C>G
NM_198056.3:c.235C>G
NP_000326.2:p.Pro79Ala
NP_001092874.1:p.Pro79Ala
NP_001092875.1:p.Pro79Ala
NP_001153632.1:p.Pro79Ala
NP_001153633.1:p.Pro79Ala
NP_001341630.1:p.Pro79Ala
NP_932173.1:p.Pro79Ala
LRG_289t1:c.235C>G
LRG_289:g.21600C>G
NC_000003.11:g.38674564G>C

Protein change:

P79A

Links:

dbSNP: rs200923894

NCBI 1000 Genomes Browser:

rs200923894

Molecular consequence:

NM_000335.5:c.235C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001099404.2:c.235C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001099405.2:c.235C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001160160.2:c.235C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001160161.2:c.235C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354701.2:c.235C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198056.3:c.235C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BR...<br/>Year introduced: 2011

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003864516	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 17, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003864516

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 17, 2023)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV003864516.2

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

Description

The p.P79A variant (also known as c.235C>G), located in coding exon 1 of the SCN5A gene, results from a C to G substitution at nucleotide position 235. The proline at codon 79 is replaced by alanine, an amino acid with highly similar properties. 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.

#	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: Nov 3, 2024

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