NM_004415.4(DSP):c.1350_1351insTTA (p.Pro450_Arg451insLeu) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 21, 2019
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:: RCV000822671.9

Allele description [Variation Report for NM_004415.4(DSP):c.1350_1351insTTA (p.Pro450_Arg451insLeu)]

NM_004415.4(DSP):c.1350_1351insTTA (p.Pro450_Arg451insLeu)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

6p24.3

Genomic location:

Preferred name:

NM_004415.4(DSP):c.1350_1351insTTA (p.Pro450_Arg451insLeu)

HGVS:

NC_000006.12:g.7568520_7568521insTTA
NG_008803.1:g.31884_31885insTTA
NM_001008844.3:c.1350_1351insTTA
NM_001319034.2:c.1350_1351insTTA
NM_004415.4:c.1350_1351insTTAMANE SELECT
NP_001008844.1:p.Pro450_Arg451insLeu
NP_001305963.1:p.Pro450_Arg451insLeu
NP_004406.2:p.Pro450_Arg451insLeu
LRG_423t1:c.1350_1351insTTA
LRG_423:g.31884_31885insTTA
NC_000006.11:g.7568753_7568754insTTA
NM_004415.2:c.1350_1351insTTA
NM_004415.3:c.1350_1351insTTA

Links:

dbSNP: rs1581802595

NCBI 1000 Genomes Browser:

rs1581802595

Molecular consequence:

NM_001008844.3:c.1350_1351insTTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001319034.2:c.1350_1351insTTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_004415.4:c.1350_1351insTTA - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Synonyms:: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair; Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy; Dilated cardiomyopathy with woolly hair and keratoderma; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011581; MedGen: C1854063; Orphanet: 65282; OMIM: 605676

Name:: Arrhythmogenic right ventricular dysplasia 8 (ARVD8)
Synonyms:: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; Arrhythmogenic right ventricular cardiomyopathy, type 8; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8
Identifiers:: MONDO: MONDO:0011831; MedGen: C1843896; OMIM: 607450

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000963481	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 21, 2019)	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

SCV000963481

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 21, 2019)

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000963481.6

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with DSP-related disease. This variant is not present in population databases (ExAC no frequency). This variant, c.1350_1351insTTA, results in the insertion of 1 amino acid(s) to the DSP protein (p.Pro450_Arg451insLeu), but otherwise preserves the integrity of the reading frame.

#	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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