NM_004415.4(DSP):c.6188G>A (p.Arg2063Gln) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 11, 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:: RCV000617463.4

Allele description [Variation Report for NM_004415.4(DSP):c.6188G>A (p.Arg2063Gln)]

NM_004415.4(DSP):c.6188G>A (p.Arg2063Gln)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.3

Genomic location:

Preferred name:

NM_004415.4(DSP):c.6188G>A (p.Arg2063Gln)

Other names:

p.R2063Q:CGG>CAG

HGVS:

NC_000006.12:g.7583450G>A
NG_008803.1:g.46814G>A
NM_001008844.3:c.4391G>A
NM_001319034.2:c.4859G>A
NM_004415.4:c.6188G>AMANE SELECT
NP_001008844.1:p.Arg1464Gln
NP_001305963.1:p.Arg1620Gln
NP_004406.2:p.Arg2063Gln
LRG_423t1:c.6188G>A
LRG_423:g.46814G>A
NC_000006.11:g.7583683G>A
NM_004415.2:c.6188G>A

Protein change:

R1464Q

Links:

dbSNP: rs142927608

NCBI 1000 Genomes Browser:

rs142927608

Molecular consequence:

NM_001008844.3:c.4391G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001319034.2:c.4859G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004415.4:c.6188G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000735932	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 11, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000735932

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 11, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy.

Bottillo I, D'Angelantonio D, Caputo V, Paiardini A, Lipari M, De Bernardo C, Giannarelli D, Pizzuti A, Majore S, Castori M, Zachara E, Re F, Grammatico P.

Gene. 2016 Feb 15;577(2):227-35. doi: 10.1016/j.gene.2015.11.048. Epub 2015 Dec 2.

PubMed [citation]

PMID:: 26656175

Details of each submission

From Ambry Genetics, SCV000735932.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The p.R2063Q variant (also known as c.6188G>A), located in coding exon 24 of the DSP gene, results from a G to A substitution at nucleotide position 6188. The arginine at codon 2063 is replaced by glutamine, an amino acid with highly similar properties. This alteration has been reported in a hypertrophic cardiomyopathy (HCM) cohort; however, additional alterations in other cardiac-related genes were identified (Bottillo I et al. Gene, 2016 Feb;577:227-35). This amino acid position is not well conserved in available vertebrate species. 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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