NM_004415.4(DSP):c.5683C>G (p.Leu1895Val) AND Cardiomyopathy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 17, 2021
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:: RCV001526201.2

Allele description [Variation Report for NM_004415.4(DSP):c.5683C>G (p.Leu1895Val)]

NM_004415.4(DSP):c.5683C>G (p.Leu1895Val)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.3

Genomic location:

Preferred name:

NM_004415.4(DSP):c.5683C>G (p.Leu1895Val)

HGVS:

NC_000006.12:g.7582945C>G
NG_008803.1:g.46309C>G
NM_001008844.3:c.3886C>G
NM_001319034.2:c.4354C>G
NM_004415.4:c.5683C>GMANE SELECT
NP_001008844.1:p.Leu1296Val
NP_001305963.1:p.Leu1452Val
NP_004406.2:p.Leu1895Val
LRG_423t1:c.5683C>G
LRG_423:g.46309C>G
NC_000006.11:g.7583178C>G
NM_004415.2:c.5683C>G

Protein change:

L1296V

Links:

dbSNP: rs1159494439

NCBI 1000 Genomes Browser:

rs1159494439

Molecular consequence:

NM_001008844.3:c.3886C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001319034.2:c.4354C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004415.4:c.5683C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiomyopathy (CMYO)
Synonyms:: Cardiomyopathies
Identifiers:: MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

Recent activity

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RecName: Full=Endothelin-converting enzyme-like 1; AltName: Full=Damage-induced ...
RecName: Full=Endothelin-converting enzyme-like 1; AltName: Full=Damage-induced neuronal endopeptidase; AltName: Full=Xce protein
gi|20137605|sp|Q9JHL3.1|ECEL1_RAT

Protein
b3galt6 [Ictalurus punctatus]
b3galt6 [Ictalurus punctatus]
Gene ID:108255271

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001736503	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 17, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001736503

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 17, 2021)

germline

clinical testing

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

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV001736503.1

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

Description

This missense variant replaces leucine with valine at codon 1895 of the DSP protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#	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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