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NM_000113.3(TOR1A):c.952G>A (p.Gly318Ser) AND Arthrogryposis multiplex congenita 5

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 31, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001250910.1

Allele description [Variation Report for NM_000113.3(TOR1A):c.952G>A (p.Gly318Ser)]

NM_000113.3(TOR1A):c.952G>A (p.Gly318Ser)

Gene:
TOR1A:torsin family 1 member A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_000113.3(TOR1A):c.952G>A (p.Gly318Ser)
HGVS:
  • NC_000009.12:g.129814019C>T
  • NG_008049.1:g.15144G>A
  • NM_000113.3:c.952G>AMANE SELECT
  • NP_000104.1:p.Gly318Ser
  • LRG_1029t1:c.952G>A
  • LRG_1029:g.15144G>A
  • LRG_1029p1:p.Gly318Ser
  • NC_000009.11:g.132576298C>T
Protein change:
G318S; GLY318SER
Links:
OMIM: 605204.0006; dbSNP: rs2030965698
NCBI 1000 Genomes Browser:
rs2030965698
Molecular consequence:
  • NM_000113.3:c.952G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Arthrogryposis multiplex congenita 5
Identifiers:
MONDO: MONDO:0100218; MedGen: C5436453; OMIM: 618947

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001426387OMIM
no assertion criteria provided
Pathogenic
(Jul 31, 2020) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.

Kariminejad A, Dahl-Halvarsson M, Ravenscroft G, Afroozan F, Keshavarz E, Goullée H, Davis MR, Faraji Zonooz M, Najmabadi H, Laing NG, Tajsharghi H.

Brain. 2017 Nov 1;140(11):2851-2859. doi: 10.1093/brain/awx230.

PubMed [citation]
PMID:
29053766

Details of each submission

From OMIM, SCV001426387.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 brothers, born of consanguineous Iranian parents (family 1) with arthrogryposis multiplex congenita-5 (AMC5; 618947), Kariminejad et al. (2017) identified a homozygous c.952G-A transition in exon 5 of the TOR1A gene, resulting in a gly318-to-ser (G318S) substitution. The mutation, which was found by targeted next-generation sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The heterozygous carrier parents did not have torsion dystonia, consistent with incomplete penetrance of the dominant phenotype. In vitro expression studies in cells transfected with the mutation showed abnormal localization of the mutant protein from the endoplasmic reticulum to the nuclear envelope, as well as the formation of spheroid bodies.

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

Last Updated: Apr 23, 2022