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NM_004415.4(DSP):c.3931C>T (p.Gln1311Ter) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 22, 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:
RCV003278544.2

Allele description [Variation Report for NM_004415.4(DSP):c.3931C>T (p.Gln1311Ter)]

NM_004415.4(DSP):c.3931C>T (p.Gln1311Ter)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.3931C>T (p.Gln1311Ter)
HGVS:
  • NC_000006.12:g.7580121C>T
  • NG_008803.1:g.43485C>T
  • NM_001008844.3:c.3582+349C>T
  • NM_001319034.2:c.3931C>T
  • NM_004415.4:c.3931C>TMANE SELECT
  • NP_001305963.1:p.Gln1311Ter
  • NP_004406.2:p.Gln1311Ter
  • NP_004406.2:p.Gln1311Ter
  • LRG_423t1:c.3931C>T
  • LRG_423:g.43485C>T
  • LRG_423p1:p.Gln1311Ter
  • NC_000006.11:g.7580354C>T
  • NM_004415.2:c.3931C>T
Protein change:
Q1311*
Molecular consequence:
  • NM_001008844.3:c.3582+349C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001319034.2:c.3931C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004415.4:c.3931C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004007794Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Mar 22, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004007794.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.Q1311* pathogenic mutation (also known as c.3931C>T), located in coding exon 23 of the DSP gene, results from a C to T substitution at nucleotide position 3931. This changes the amino acid from a glutamine to a stop codon within coding exon 23. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: May 1, 2024