NM_004415.4(DSP):c.8350T>C (p.Ser2784Pro) AND Cardiomyopathy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 4, 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:: RCV001178209.3

Allele description [Variation Report for NM_004415.4(DSP):c.8350T>C (p.Ser2784Pro)]

NM_004415.4(DSP):c.8350T>C (p.Ser2784Pro)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.3

Genomic location:

Preferred name:

NM_004415.4(DSP):c.8350T>C (p.Ser2784Pro)

HGVS:

NC_000006.12:g.7585612T>C
NG_008803.1:g.48976T>C
NM_001008844.3:c.6553T>C
NM_001319034.2:c.7021T>C
NM_004415.4:c.8350T>CMANE SELECT
NP_001008844.1:p.Ser2185Pro
NP_001305963.1:p.Ser2341Pro
NP_004406.2:p.Ser2784Pro
LRG_423t1:c.8350T>C
LRG_423:g.48976T>C
NC_000006.11:g.7585845T>C
NM_004415.2:c.8350T>C

Protein change:

S2185P

Links:

dbSNP: rs1240301188

NCBI 1000 Genomes Browser:

rs1240301188

Molecular consequence:

NM_001008844.3:c.6553T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001319034.2:c.7021T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004415.4:c.8350T>C - 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

Clear Turn Off Turn On

Mus musculus N-myristoyltransferase 1, mRNA (cDNA clone MGC:8150 IMAGE:3589678),...
Mus musculus N-myristoyltransferase 1, mRNA (cDNA clone MGC:8150 IMAGE:3589678), complete cds
gi|16741408|gb|BC016526.1|

Nucleotide
Chain A, Syntaxin-binding protein 1
Chain A, Syntaxin-binding protein 1
gi|170785225|pdb|3C98|A

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001342589	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 4, 2023)	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

SCV001342589

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 4, 2023)

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, SCV001342589.2

#	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 serine with proline at codon 2784 of the DSP protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with DSP-related 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: Feb 20, 2024

ClinVar

Relating variation to medicine