U.S. flag

An official website of the United States government

NM_004415.4(DSP):c.3757A>C (p.Ile1253Leu) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 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:
RCV003293958.2

Allele description [Variation Report for NM_004415.4(DSP):c.3757A>C (p.Ile1253Leu)]

NM_004415.4(DSP):c.3757A>C (p.Ile1253Leu)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.3757A>C (p.Ile1253Leu)
HGVS:
  • NC_000006.12:g.7579947A>C
  • NG_008803.1:g.43311A>C
  • NM_001008844.3:c.3582+175A>C
  • NM_001319034.2:c.3757A>C
  • NM_004415.4:c.3757A>CMANE SELECT
  • NP_001305963.1:p.Ile1253Leu
  • NP_004406.2:p.Ile1253Leu
  • LRG_423t1:c.3757A>C
  • LRG_423:g.43311A>C
  • NC_000006.11:g.7580180A>C
  • NC_000006.11:g.7580180A>C
  • NM_004415.2:c.3757A>C
Protein change:
I1253L
Links:
dbSNP: rs924651718
NCBI 1000 Genomes Browser:
rs924651718
Molecular consequence:
  • NM_001008844.3:c.3582+175A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001319034.2:c.3757A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004415.4:c.3757A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003996577Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 14, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003996577.2

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

Description

The p.I1253L variant (also known as c.3757A>C), located in coding exon 23 of the DSP gene, results from an A to C substitution at nucleotide position 3757. The isoleucine at codon 1253 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. 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
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024