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NM_004415.4(DSP):c.7907G>A (p.Gly2636Asp) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 26, 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:
RCV001052193.8

Allele description [Variation Report for NM_004415.4(DSP):c.7907G>A (p.Gly2636Asp)]

NM_004415.4(DSP):c.7907G>A (p.Gly2636Asp)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.7907G>A (p.Gly2636Asp)
HGVS:
  • NC_000006.12:g.7585169G>A
  • NG_008803.1:g.48533G>A
  • NM_001008844.3:c.6110G>A
  • NM_001319034.2:c.6578G>A
  • NM_004415.4:c.7907G>AMANE SELECT
  • NP_001008844.1:p.Gly2037Asp
  • NP_001305963.1:p.Gly2193Asp
  • NP_004406.2:p.Gly2636Asp
  • LRG_423t1:c.7907G>A
  • LRG_423:g.48533G>A
  • NC_000006.11:g.7585402G>A
  • NM_004415.2:c.7907G>A
Protein change:
G2037D
Links:
dbSNP: rs1759605211
NCBI 1000 Genomes Browser:
rs1759605211
Molecular consequence:
  • NM_001008844.3:c.6110G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001319034.2:c.6578G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004415.4:c.7907G>A - missense variant - [Sequence Ontology: SO:0001583]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001216392Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Nov 26, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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, SCV001216392.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with DSP-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with aspartic acid at codon 2636 of the DSP protein (p.Gly2636Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024