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NM_004415.4(DSP):c.822CAT[1] (p.Ile276del) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 3, 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:
RCV003278545.2

Allele description [Variation Report for NM_004415.4(DSP):c.822CAT[1] (p.Ile276del)]

NM_004415.4(DSP):c.822CAT[1] (p.Ile276del)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.822CAT[1] (p.Ile276del)
HGVS:
  • NC_000006.12:g.7565403CAT[1]
  • NG_008803.1:g.28767CAT[1]
  • NM_001008844.3:c.822CAT[1]
  • NM_001319034.2:c.822CAT[1]
  • NM_001406591.1:c.822CAT[1]
  • NM_004415.4:c.822CAT[1]MANE SELECT
  • NP_001008844.1:p.Ile276del
  • NP_001305963.1:p.Ile276del
  • NP_001393520.1:p.Ile276del
  • NP_004406.2:p.Ile276del
  • NP_004406.2:p.Ile276del
  • LRG_423t1:c.822_824CAT[1]
  • LRG_423:g.28767CAT[1]
  • LRG_423p1:p.Ile276del
  • NC_000006.11:g.7565636CAT[1]
  • NM_004415.2:c.822_824CAT[1]
  • NM_004415.2:c.825_827delCAT
Protein change:
I276del
Molecular consequence:
  • NM_001008844.3:c.822CAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001319034.2:c.822CAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001406591.1:c.822CAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004415.4:c.822CAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV004007795Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 3, 2023) 		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

A Novel Heterozygous Desmoplakin Variant Causes Cardiocutaneous Syndrome with Arrhythmogenic Cardiomyopathy and Palmoplantar Keratosis.

Çimen T, Medeiros-Domingo A, Kolios A, Akdiş D, Anwer S, Tanner FC, Brunckhorst C, Duru F, Saguner AM.

J Clin Med. 2023 Jan 24;12(3). doi:pii: 913. 10.3390/jcm12030913.

PubMed [citation]
PMID:
36769561
PMCID:
PMC9917917

Details of each submission

From Ambry Genetics, SCV004007795.2

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

Description

The c.825_827delCAT variant (also known as p.I276del) is located in coding exon 7 of the DSP gene. This variant results from an in-frame CAT deletion at nucleotide positions 825 to 827. This results in the in-frame deletion of an isoleucine at codon 276. This alteration has been reported in an individual with concerns for DSP-related cardiomyopathy (Çimen T et al. J Clin Med, 2023 Jan;12:[ePub ahead of print]). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). 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: May 1, 2024