NM_001927.4(DES):c.1325C>T (p.Thr442Ile) AND not provided

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Oct 1, 2018
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000056784.26

Allele description [Variation Report for NM_001927.4(DES):c.1325C>T (p.Thr442Ile)]

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

Gene:

DES:desmin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

Preferred name:

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

HGVS:

NC_000002.12:g.219425699C>T
NG_008043.1:g.12323C>T
NM_001927.4:c.1325C>TMANE SELECT
NP_001918.3:p.Thr442Ile
LRG_380t1:c.1325C>T
LRG_380:g.12323C>T
LRG_380p1:p.Thr442Ile
NC_000002.11:g.220290421C>T
NM_001927.3:c.1325C>T
P17661:p.Thr442Ile

Protein change:

T442I; THR442ILE

Links:

UniProtKB: P17661#VAR_042459; OMIM: 125660.0015; dbSNP: rs121913005

NCBI 1000 Genomes Browser:

rs121913005

Molecular consequence:

NM_001927.4:c.1325C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000087897	Epithelial Biology; Institute of Medical Biology, Singapore	no classification provided	not provided	not provided	not provided
SCV000331912	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Pathogenic (May 21, 2018)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 17221859, 22153487, 22215463 Citation Link,
SCV001248942	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Oct 1, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000087897

Epithelial Biology; Institute of Medical Biology, Singapore

no classification provided

not provided

SCV000331912

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)

Pathogenic
(May 21, 2018)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link,

SCV001248942

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Oct 1, 2018)

germline

clinical testing

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	clinical testing
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only
not provided	germline	unknown	4	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.

Bär H, Goudeau B, Wälde S, Casteras-Simon M, Mücke N, Shatunov A, Goldberg YP, Clarke C, Holton JL, Eymard B, Katus HA, Fardeau M, Goldfarb L, Vicart P, Herrmann H.

Hum Mutat. 2007 Apr;28(4):374-86.

PubMed [citation]

PMID:: 17221859

High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.

Wahbi K, Béhin A, Charron P, Dunand M, Richard P, Meune C, Vicart P, Laforêt P, Stojkovic T, Bécane HM, Kuntzer T, Duboc D.

Neuromuscul Disord. 2012 Mar;22(3):211-8. doi: 10.1016/j.nmd.2011.10.019. Epub 2011 Dec 5.

PubMed [citation]

PMID:: 22153487

See all PubMed Citations (3)

Details of each submission

From Epithelial Biology; Institute of Medical Biology, Singapore, SCV000087897.1

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

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

From Eurofins Ntd Llc (ga), SCV000331912.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	PubMed (3)

#	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		4	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV001248942.20

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

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

Last Updated: Apr 20, 2024

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