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NM_001927.4(DES):c.1325C>T (p.Thr442Ile)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jul 4, 2021)
Last evaluated:
Dec 10, 2018
Accession:
VCV000016834.8
Variation ID:
16834
Description:
single nucleotide variant
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NM_001927.4(DES):c.1325C>T (p.Thr442Ile)

Allele ID
31873
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 219425699 (GRCh38) GRCh38 UCSC
2: 220290421 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P17661:p.Thr442Ile
NC_000002.11:g.220290421C>T
NC_000002.12:g.219425699C>T
... more HGVS
Protein change
T442I
Other names
-
Canonical SPDI
NC_000002.12:219425698:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA217036
UniProtKB: P17661#VAR_042459
OMIM: 125660.0015
dbSNP: rs121913005
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, multiple submitters, no conflicts Oct 1, 2018 RCV000056784.4
Pathogenic 1 criteria provided, single submitter Dec 10, 2018 RCV000811753.1
Pathogenic 1 no assertion criteria provided Apr 1, 2007 RCV000018328.32
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DES - - GRCh38
GRCh37
569 607

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 21, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000331912.4
Submitted: (Sep 19, 2018)
Evidence details
Publications
PubMed (3)
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(Dec 10, 2018)
criteria provided, single submitter
Method: clinical testing
Muscular dystrophy, limb-girdle, type 2R
Myofibrillar myopathy 1
Allele origin: germline
Invitae
Accession: SCV000952036.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change replaces threonine with isoleucine at codon 442 of the DES protein (p.Thr442Ile). The threonine residue is moderately conserved and there is a … (more)
Pathogenic
(Oct 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001248942.6
Submitted: (Jul 04, 2021)
Evidence details
Pathogenic
(Apr 01, 2007)
no assertion criteria provided
Method: literature only
MYOPATHY, MYOFIBRILLAR, 1
Allele origin: germline
OMIM
Accession: SCV000038607.4
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: not provided
Epithelial Biology; Institute of Medical Biology, Singapore
Accession: SCV000087897.1
Submitted: (Jul 31, 2012)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D. van Spaendonck-Zwarts KY Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation 2012 PMID: 22215463
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. Wahbi K Neuromuscular disorders : NMD 2012 PMID: 22153487
Desmin mutations in the terminal consensus motif prevent synemin-desmin heteropolymer filament assembly. Chourbagi O Experimental cell research 2011 PMID: 21262226
Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene. Claeys KG Neuromuscular disorders : NMD 2008 PMID: 18653338
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies. Bär H Human mutation 2007 PMID: 17221859
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=DES - - - -

Text-mined citations for rs121913005...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021