NM_024422.6(DSC2):c.1024A>G (p.Ile342Val) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 26, 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:: RCV002386791.2

Allele description [Variation Report for NM_024422.6(DSC2):c.1024A>G (p.Ile342Val)]

NM_024422.6(DSC2):c.1024A>G (p.Ile342Val)

Gene:

DSC2:desmocollin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q12.1

Genomic location:

Preferred name:

NM_024422.6(DSC2):c.1024A>G (p.Ile342Val)

HGVS:

NC_000018.10:g.31082979T>C
NG_008208.2:g.24447A>G
NM_004949.5:c.1024A>G
NM_024422.6:c.1024A>GMANE SELECT
NP_004940.1:p.Ile342Val
NP_077740.1:p.Ile342Val
LRG_400:g.24447A>G
NC_000018.9:g.28662945T>C
NM_024422.3:c.1024A>G

Protein change:

I342V

Links:

dbSNP: rs746745677

NCBI 1000 Genomes Browser:

rs746745677

Molecular consequence:

NM_004949.5:c.1024A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_024422.6:c.1024A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002691532	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 26, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002691532

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 26, 2019)

germline

clinical testing

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

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

Citations

PubMed

Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.

Xu T, Yang Z, Vatta M, Rampazzo A, Beffagna G, Pilichou K, Scherer SE, Saffitz J, Kravitz J, Zareba W, Danieli GA, Lorenzon A, Nava A, Bauce B, Thiene G, Basso C, Calkins H, Gear K, Marcus F, Towbin JA; Multidisciplinary Study of Right Ventricular Dysplasia Investigators..

J Am Coll Cardiol. 2010 Feb 9;55(6):587-97. doi: 10.1016/j.jacc.2009.11.020. Erratum in: J Am Coll Cardiol. 2010 Mar 30;55(13):1401. Pillichou, Kalliopi [corrected to Pilichou, Kalliopi].

PubMed [citation]

PMID:: 20152563
PMCID:: PMC2852685

Details of each submission

From Ambry Genetics, SCV002691532.2

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

Description

The p.I342V variant (also known as c.1024A>G), located in coding exon 8 of the DSC2 gene, results from an A to G substitution at nucleotide position 1024. The isoleucine at codon 342 is replaced by valine, an amino acid with highly similar properties. This variant was reported in one individual from an arrhythmogenic right ventricular cardiomyopathy (ARVC) cohort; however, clinical details were limited (Xu T et al. J. Am. Coll. Cardiol., 2010 Feb;55:587-97). This amino acid position is not well conserved in available vertebrate species, and valine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated 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: Sep 29, 2024

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