NM_003919.3(SGCE):c.1024C>T (p.Arg342Ter) AND Myoclonic dystonia 11

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 11, 2023
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:: RCV003880423.1

Allele description [Variation Report for NM_003919.3(SGCE):c.1024C>T (p.Arg342Ter)]

NM_003919.3(SGCE):c.1024C>T (p.Arg342Ter)

Genes:

CASD1:CAS1 domain containing 1 [Gene - OMIM - HGNC]
SGCE:sarcoglycan epsilon [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.3

Genomic location:

Preferred name:

NM_003919.3(SGCE):c.1024C>T (p.Arg342Ter)

HGVS:

NC_000007.14:g.94600659G>A
NG_008893.3:g.60914C>T
NM_001099400.2:c.1024C>T
NM_001099401.2:c.1024C>T
NM_001301139.2:c.901C>T
NM_001346713.2:c.1132C>T
NM_001346715.2:c.1132C>T
NM_001346717.2:c.1024C>T
NM_001346719.2:c.937C>T
NM_001346720.2:c.751C>T
NM_001362807.2:c.937C>T
NM_001362808.2:c.751C>T
NM_001362809.2:c.901C>T
NM_003919.3:c.1024C>TMANE SELECT
NP_001092870.1:p.Arg342Ter
NP_001092871.1:p.Arg342Ter
NP_001288068.1:p.Arg301Ter
NP_001333642.1:p.Arg378Ter
NP_001333644.1:p.Arg378Ter
NP_001333646.1:p.Arg342Ter
NP_001333648.1:p.Arg313Ter
NP_001333649.1:p.Arg251Ter
NP_001349736.1:p.Arg313Ter
NP_001349737.1:p.Arg251Ter
NP_001349738.1:p.Arg301Ter
NP_003910.1:p.Arg342Ter
LRG_206t1:c.1024C>T
LRG_206:g.60914C>T
LRG_206p1:p.Arg342Ter
NC_000007.13:g.94229971G>A

Protein change:

R251*

Molecular consequence:

NM_001099400.2:c.1024C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001099401.2:c.1024C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001301139.2:c.901C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001346713.2:c.1132C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001346715.2:c.1132C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001346717.2:c.1024C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001346719.2:c.937C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001346720.2:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001362807.2:c.937C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001362808.2:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001362809.2:c.901C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_003919.3:c.1024C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Myoclonic dystonia 11 (DYT11)
Synonyms:: Myoclonic dystonia; Dystonia 11; Dystonia, alcohol responsive; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008044; MedGen: C1834570; Orphanet: 36899; OMIM: 159900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004686433	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 11, 2023)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 12821748, 15389977, 17853490, 24297365, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004686433

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 11, 2023)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

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

Hereditary myoclonus-dystonia associated with epilepsy.

Foncke EM, Klein C, Koelman JH, Kramer PL, Schilling K, Müller B, Garrels J, de Carvalho Aguiar P, Liu L, de Froe A, Speelman JD, Ozelius LJ, Tijssen MA.

Neurology. 2003 Jun 24;60(12):1988-90.

PubMed [citation]

PMID:: 12821748

Inherited myoclonus-dystonia and epilepsy: further evidence of an association?

O'Riordan S, Ozelius LJ, de Carvalho Aguiar P, Hutchinson M, King M, Lynch T.

Mov Disord. 2004 Dec;19(12):1456-9.

PubMed [citation]

PMID:: 15389977

See all PubMed Citations (5)

Details of each submission

From Invitae, SCV004686433.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

This sequence change creates a premature translational stop signal (p.Arg342*) in the SGCE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGCE are known to be pathogenic (PMID: 12821748, 15389977, 17853490, 24297365). This variant is present in population databases (no rsID available, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SGCE-related conditions. For these reasons, this variant has been classified as Pathogenic.

#	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: Mar 5, 2024

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