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NM_004415.4(DSP):c.3211C>T (p.Gln1071Ter) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 26, 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:
RCV004366539.1

Allele description [Variation Report for NM_004415.4(DSP):c.3211C>T (p.Gln1071Ter)]

NM_004415.4(DSP):c.3211C>T (p.Gln1071Ter)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.3211C>T (p.Gln1071Ter)
HGVS:
  • NC_000006.12:g.7579401C>T
  • NG_008803.1:g.42765C>T
  • NM_001008844.3:c.3211C>T
  • NM_001319034.2:c.3211C>T
  • NM_004415.4:c.3211C>TMANE SELECT
  • NP_001008844.1:p.Gln1071Ter
  • NP_001305963.1:p.Gln1071Ter
  • NP_004406.2:p.Gln1071Ter
  • NP_004406.2:p.Gln1071Ter
  • LRG_423t1:c.3211C>T
  • LRG_423:g.42765C>T
  • LRG_423p1:p.Gln1071Ter
  • NC_000006.11:g.7579634C>T
  • NM_004415.2:c.3211C>T
Protein change:
Q1071*
Molecular consequence:
  • NM_001008844.3:c.3211C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001319034.2:c.3211C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004415.4:c.3211C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV005022532Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Oct 26, 2023) 		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 providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Familial screening in case of acute myocarditis reveals inherited arrhythmogenic left ventricular cardiomyopathies.

Piriou N, Marteau L, Kyndt F, Serfaty JM, Toquet C, Le Gloan L, Warin-Fresse K, Guijarro D, Le Tourneau T, Conan E, Thollet A, Probst V, Trochu JN.

ESC Heart Fail. 2020 Aug;7(4):1520-1533. doi: 10.1002/ehf2.12686. Epub 2020 May 1.

PubMed [citation]
PMID:
32356610
PMCID:
PMC7373927

Details of each submission

From Ambry Genetics, SCV005022532.1

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

Description

The p.Q1071* pathogenic mutation (also known as c.3211C>T), located in coding exon 23 of the DSP gene, results from a C to T substitution at nucleotide position 3211. This changes the amino acid from a glutamine to a stop codon within coding exon 23. This variant has been detected in a proband diagnosed with myocarditis and nonsustained ventricular tachycardia (Piriou N et al. ESC Heart Fail, 2020 Aug;7:1520-1533). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Alterations in DSP that result in haploinsufficiency or protein truncation have been reported in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) and dilated cardiomyopathy (DCM) (Fressart V et al. Europace. 2010;12(6):861-8; Elliott P et al. Circ Cardiovasc Genet. 2010;3(4):314-22; Quarta G et al. Circulation. 2011;123(23):2701-9; Garcia-Pavia P et al. Heart. 2011;97(21):1744-52; Rasmussen TB et al. Clin Genet. 2013;84(1):20-30; Pugh TJ et al. Genet Med. 2014;16(8):601-8). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Sep 29, 2024