NM_004415.4(DSP):c.7924G>A (p.Val2642Ile) AND not specified

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Feb 13, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000220371.5

Allele description [Variation Report for NM_004415.4(DSP):c.7924G>A (p.Val2642Ile)]

NM_004415.4(DSP):c.7924G>A (p.Val2642Ile)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.3

Genomic location:

Preferred name:

NM_004415.4(DSP):c.7924G>A (p.Val2642Ile)

HGVS:

NC_000006.12:g.7585186G>A
NG_008803.1:g.48550G>A
NM_001008844.3:c.6127G>A
NM_001319034.2:c.6595G>A
NM_004415.4:c.7924G>AMANE SELECT
NP_001008844.1:p.Val2043Ile
NP_001305963.1:p.Val2199Ile
NP_004406.2:p.Val2642Ile
LRG_423t1:c.7924G>A
LRG_423:g.48550G>A
NC_000006.11:g.7585419G>A
NM_004415.2:c.7924G>A
NM_004415.3:c.7924G>A

Protein change:

V2043I

Links:

dbSNP: rs869025397

NCBI 1000 Genomes Browser:

rs869025397

Molecular consequence:

NM_001008844.3:c.6127G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001319034.2:c.6595G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004415.4:c.7924G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000271743	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Mar 4, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003844632	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Feb 13, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000271743

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Mar 4, 2015)

germline

clinical testing

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

SCV003844632

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Feb 13, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000271743.2

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

Description

The p.Val2642Ile variant in DSP has not been previously identified in individual s with cardiomyopathy or in large population studies. Computational prediction t ools and conservation analysis does not provide strong evidence for or against a n impact the protein. In summary, the clinical significance of the p.Val2642Ile variant is uncertain.

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003844632.1

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

#	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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