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NM_004415.4(DSP):c.3793G>T (p.Glu1265Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 21, 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:
RCV001389691.6

Allele description [Variation Report for NM_004415.4(DSP):c.3793G>T (p.Glu1265Ter)]

NM_004415.4(DSP):c.3793G>T (p.Glu1265Ter)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.3793G>T (p.Glu1265Ter)
HGVS:
  • NC_000006.12:g.7579983G>T
  • NG_008803.1:g.43347G>T
  • NM_001008844.3:c.3582+211G>T
  • NM_001319034.2:c.3793G>T
  • NM_004415.4:c.3793G>TMANE SELECT
  • NP_001305963.1:p.Glu1265Ter
  • NP_004406.2:p.Glu1265Ter
  • LRG_423t1:c.3793G>T
  • LRG_423:g.43347G>T
  • NC_000006.11:g.7580216G>T
  • NM_004415.2:c.3793G>T
Protein change:
E1265*
Links:
dbSNP: rs1554108172
NCBI 1000 Genomes Browser:
rs1554108172
Molecular consequence:
  • NM_001008844.3:c.3582+211G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001319034.2:c.3793G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004415.4:c.3793G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Synonyms:
Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair; Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy; Dilated cardiomyopathy with woolly hair and keratoderma; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011581; MedGen: C1854063; Orphanet: 65282; OMIM: 605676
Name:
Arrhythmogenic right ventricular dysplasia 8 (ARVD8)
Synonyms:
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; Arrhythmogenic right ventricular cardiomyopathy, type 8; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8
Identifiers:
MONDO: MONDO:0011831; MedGen: C1843896; OMIM: 607450

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001591141Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Feb 21, 2020)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.

Elliott P, O'Mahony C, Syrris P, Evans A, Rivera Sorensen C, Sheppard MN, Carr-White G, Pantazis A, McKenna WJ.

Circ Cardiovasc Genet. 2010 Aug;3(4):314-22. doi: 10.1161/CIRCGENETICS.110.937805.

PubMed [citation]
PMID:
20716751

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH.

Genet Med. 2014 Aug;16(8):601-8. doi: 10.1038/gim.2013.204. Epub 2014 Feb 6.

PubMed [citation]
PMID:
24503780
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001591141.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DSP are known to be pathogenic (PMID: 20716751, 24503780, 25227139). This variant has not been reported in the literature in individuals with DSP-related conditions. ClinVar contains an entry for this variant (Variation ID: 523474). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu1265*) in the DSP gene. It is expected to result in an absent or disrupted protein product.

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

Last Updated: May 7, 2024