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NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 6, 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:
RCV000244840.2

Allele description [Variation Report for NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp)]

NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp)
HGVS:
  • NC_000006.12:g.7580112C>T
  • NG_008803.1:g.43476C>T
  • NM_001008844.3:c.3582+340C>T
  • NM_001319034.2:c.3922C>T
  • NM_004415.4:c.3922C>TMANE SELECT
  • NP_001305963.1:p.Arg1308Trp
  • NP_004406.2:p.Arg1308Trp
  • LRG_423t1:c.3922C>T
  • LRG_423:g.43476C>T
  • NC_000006.11:g.7580345C>T
  • NM_004415.2:c.3922C>T
Protein change:
R1308W
Links:
dbSNP: rs144641271
NCBI 1000 Genomes Browser:
rs144641271
Molecular consequence:
  • NM_001008844.3:c.3582+340C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001319034.2:c.3922C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004415.4:c.3922C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000319668Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Jul 6, 2022) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Sudden Arrhythmic Death During Exercise: A Post-Mortem Genetic Analysis.

Campuzano O, Sanchez-Molero O, Fernandez A, Mademont-Soler I, Coll M, Perez-Serra A, Mates J, Del Olmo B, Pico F, Nogue-Navarro L, Sarquella-Brugada G, Iglesias A, Cesar S, Carro E, Borondo JC, Brugada J, Castellà J, Medallo J, Brugada R.

Sports Med. 2017 Oct;47(10):2101-2115. doi: 10.1007/s40279-017-0705-3.

PubMed [citation]
PMID:
28255936

Details of each submission

From Ambry Genetics, SCV000319668.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.R1308W variant (also known as c.3922C>T), located in coding exon 23 of the DSP gene, results from a C to T substitution at nucleotide position 3922. The arginine at codon 1308 is replaced by tryptophan, an amino acid with dissimilar properties. This alteration has been detected once in an individual with unexplained sudden death (Campuzano O et al. Sports Med, 2017 Oct;47:2101-2115). This amino acid position is well 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
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024