NM_004415.4(DSP):c.7885G>A (p.Glu2629Lys) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 13, 2017
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:: RCV000490099.2

Allele description [Variation Report for NM_004415.4(DSP):c.7885G>A (p.Glu2629Lys)]

NM_004415.4(DSP):c.7885G>A (p.Glu2629Lys)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.3

Genomic location:

Preferred name:

NM_004415.4(DSP):c.7885G>A (p.Glu2629Lys)

HGVS:

NC_000006.12:g.7585147G>A
NG_008803.1:g.48511G>A
NM_001008844.3:c.6088G>A
NM_001319034.2:c.6556G>A
NM_004415.4:c.7885G>AMANE SELECT
NP_001008844.1:p.Glu2030Lys
NP_001305963.1:p.Glu2186Lys
NP_004406.2:p.Glu2629Lys
LRG_423t1:c.7885G>A
LRG_423:g.48511G>A
NC_000006.11:g.7585380G>A
NM_004415.2:c.7885G>A

Protein change:

E2030K

Links:

dbSNP: rs756976948

NCBI 1000 Genomes Browser:

rs756976948

Molecular consequence:

NM_001008844.3:c.6088G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001319034.2:c.6556G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004415.4:c.7885G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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sialidase [Clostridium beijerinckii]
sialidase [Clostridium beijerinckii]
gi|753749942|gb|AJG99379.1||gnl|PRJ 606|LF65_02806

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000577006	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Apr 13, 2017)	germline	clinical testing	Citation Link,
SCV000925066	Stanford Center for Inherited Cardiovascular Disease, Stanford University	no assertion criteria provided	Uncertain significance (Aug 16, 2017)	germline	provider interpretation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000577006

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Apr 13, 2017)

germline

clinical testing

Citation Link,

SCV000925066

Stanford Center for Inherited Cardiovascular Disease, Stanford University

no assertion criteria provided

Uncertain significance
(Aug 16, 2017)

germline

provider interpretation

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000577006.4

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

Description

The E2629K variant of uncertain significance in the DSP gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E2629K variant was is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E2629K variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, this variant lacks observation in a significant number of affected individuals, segregation data, and functional evidence, which would further clarify its pathogenicity.

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

From Stanford Center for Inherited Cardiovascular Disease, Stanford University, SCV000925066.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	provider interpretation	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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