NM_004415.4(DSP):c.1381ATT[1] (p.Ile462del) AND Cardiomyopathy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 18, 2011
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:: RCV000029676.2

Allele description [Variation Report for NM_004415.4(DSP):c.1381ATT[1] (p.Ile462del)]

NM_004415.4(DSP):c.1381ATT[1] (p.Ile462del)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

6p24.3

Genomic location:

Preferred name:

NM_004415.4(DSP):c.1381ATT[1] (p.Ile462del)

HGVS:

NC_000006.12:g.7568551ATT[1]
NG_008803.1:g.31915ATT[1]
NM_001008844.3:c.1381ATT[1]
NM_001319034.2:c.1381ATT[1]
NM_004415.4:c.1381ATT[1]MANE SELECT
NP_001008844.1:p.Ile462del
NP_001305963.1:p.Ile462del
NP_004406.2:p.Ile462del
LRG_423t1:c.1384_1386del
LRG_423:g.31915ATT[1]
NC_000006.11:g.7568784ATT[1]
NM_004415.2:c.1384_1386delATT

Protein change:

I462del

Links:

dbSNP: rs193922668

NCBI 1000 Genomes Browser:

rs193922668

Molecular consequence:

NM_001008844.3:c.1381ATT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001319034.2:c.1381ATT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004415.4:c.1381ATT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000052328	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	likely pathogenic (Aug 18, 2011)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000052328

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

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

likely pathogenic
(Aug 18, 2011)

germline

curation

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	curation

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052328.2

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

Description

Converted during submission to Likely pathogenic.

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

Last Updated: Nov 5, 2022

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