U.S. flag

An official website of the United States government

NM_004415.4(DSP):c.61G>A (p.Glu21Lys) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 27, 2020
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:
RCV000619337.4

Allele description [Variation Report for NM_004415.4(DSP):c.61G>A (p.Glu21Lys)]

NM_004415.4(DSP):c.61G>A (p.Glu21Lys)

Genes:
DSP-AS1:DSP antisense RNA 1 [Gene - HGNC]
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.61G>A (p.Glu21Lys)
HGVS:
  • NC_000006.12:g.7541976G>A
  • NG_008803.1:g.5340G>A
  • NM_001008844.3:c.61G>A
  • NM_001319034.2:c.61G>A
  • NM_004415.4:c.61G>AMANE SELECT
  • NP_001008844.1:p.Glu21Lys
  • NP_001305963.1:p.Glu21Lys
  • NP_004406.2:p.Glu21Lys
  • LRG_423t1:c.61G>A
  • LRG_423:g.5340G>A
  • NC_000006.11:g.7542209G>A
  • NM_004415.2:c.61G>A
Protein change:
E21K
Links:
dbSNP: rs747956457
NCBI 1000 Genomes Browser:
rs747956457
Molecular consequence:
  • NM_001008844.3:c.61G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001319034.2:c.61G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004415.4:c.61G>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
SCV000737496Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 27, 2020) 		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

Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation.

Castelletti S, Vischer AS, Syrris P, Crotti L, Spazzolini C, Ghidoni A, Parati G, Jenkins S, Kotta MC, McKenna WJ, Schwartz PJ, Pantazis A.

Int J Cardiol. 2017 Dec 15;249:268-273. doi: 10.1016/j.ijcard.2017.05.018. Epub 2017 May 10.

PubMed [citation]
PMID:
28527814

Details of each submission

From Ambry Genetics, SCV000737496.5

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

Description

The p.E21K variant (also known as c.61G>A), located in coding exon 1 of the DSP gene, results from a G to A substitution at nucleotide position 61. The glutamic acid at codon 21 is replaced by lysine, an amino acid with similar properties. This variant co-occurred with a frameshift variant in the DSC2 gene in an individual from an arrhythmogenic right ventricular cardiomyopathy cohort (Castelletti S et al. Int. J. Cardiol., 2017 Dec;249:268-273). 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: Sep 29, 2024