U.S. flag

An official website of the United States government

NM_001943.5(DSG2):c.1885C>T (p.Pro629Ser) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 29, 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:
RCV003372640.2

Allele description [Variation Report for NM_001943.5(DSG2):c.1885C>T (p.Pro629Ser)]

NM_001943.5(DSG2):c.1885C>T (p.Pro629Ser)

Gene:
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.1885C>T (p.Pro629Ser)
Other names:
p.P629S:CCA>TCA
HGVS:
  • NC_000018.10:g.31541198C>T
  • NG_007072.3:g.47957C>T
  • NM_001943.5:c.1885C>TMANE SELECT
  • NP_001934.2:p.Pro629Ser
  • LRG_397t1:c.1885C>T
  • LRG_397:g.47957C>T
  • NC_000018.9:g.29121161C>T
  • NM_001943.3:c.1885C>T
  • NM_001943.4:c.1885C>T
Protein change:
P629S
Links:
dbSNP: rs200804638
NCBI 1000 Genomes Browser:
rs200804638
Molecular consequence:
  • NM_001943.5:c.1885C>T - 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
SCV004096025Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 29, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Genetic Etiology for Alcohol-Induced Cardiac Toxicity.

Ware JS, Amor-Salamanca A, Tayal U, Govind R, Serrano I, Salazar-Mendiguchía J, García-Pinilla JM, Pascual-Figal DA, Nuñez J, Guzzo-Merello G, Gonzalez-Vioque E, Bardaji A, Manito N, López-Garrido MA, Padron-Barthe L, Edwards E, Whiffin N, Walsh R, Buchan RJ, Midwinter W, Wilk A, Prasad S, et al.

J Am Coll Cardiol. 2018 May 22;71(20):2293-2302. doi: 10.1016/j.jacc.2018.03.462.

PubMed [citation]
PMID:
29773157
PMCID:
PMC5957753

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F, Tayal U, Buchan RJ, Midwinter W, Wilk A, Whiffin N, Govind R, Mazaika E, de Marvao A, Dawes TJW, Felkin LE, Ahmad M, Theotokis PI, Edwards E, Ing AY, Thomson KL, Chan LLH, Sim D, Baksi AJ, Pantazis A, Roberts AM, Watkins H, et al.

Circulation. 2020 Feb 4;141(5):387-398. doi: 10.1161/CIRCULATIONAHA.119.037661. Epub 2020 Jan 27.

PubMed [citation]
PMID:
31983221
PMCID:
PMC7004454
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV004096025.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The p.P629S variant (also known as c.1885C>T), located in coding exon 13 of the DSG2 gene, results from a C to T substitution at nucleotide position 1885. The proline at codon 629 is replaced by serine, an amino acid with similar properties. This variant co-occurred with a frameshift variant in the TTN gene in an individual with alcohol-induced cardiomyopathy, and has also been detected in an individual from a dilated cardiomyopathy cohort and an individual with possible arrhythmogenic right ventricular cardiomyopathy; however, details were limited (Ware JS et al. J Am Coll Cardiol, 2018 May;71:2293-2302; Mazzarotto F et al. Circulation, 2020 Feb;141:387-398; Vallverdú-Prats M et al. J Pers Med, 2021 Feb;11). This amino acid position is highly conserved in available 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.

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

Last Updated: Feb 25, 2025