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NM_170707.4(LMNA):c.1139T>C (p.Leu380Ser) AND Congenital muscular dystrophy due to LMNA mutation

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2008
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:
RCV000015620.26

Allele description [Variation Report for NM_170707.4(LMNA):c.1139T>C (p.Leu380Ser)]

NM_170707.4(LMNA):c.1139T>C (p.Leu380Ser)

Gene:
LMNA:lamin A/C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_170707.4(LMNA):c.1139T>C (p.Leu380Ser)
HGVS:
  • NC_000001.11:g.156136103T>C
  • NG_008692.2:g.58531T>C
  • NM_001257374.3:c.803T>C
  • NM_001282624.2:c.896T>C
  • NM_001282625.2:c.1139T>C
  • NM_001282626.2:c.1139T>C
  • NM_005572.4:c.1139T>C
  • NM_170707.4:c.1139T>CMANE SELECT
  • NM_170708.4:c.1139T>C
  • NP_001244303.1:p.Leu268Ser
  • NP_001269553.1:p.Leu299Ser
  • NP_001269554.1:p.Leu380Ser
  • NP_001269555.1:p.Leu380Ser
  • NP_005563.1:p.Leu380Ser
  • NP_733821.1:p.Leu380Ser
  • NP_733822.1:p.Leu380Ser
  • LRG_254t2:c.1139T>C
  • LRG_254:g.58531T>C
  • NC_000001.10:g.156105894T>C
  • NM_170707.2:c.1139T>C
  • P02545:p.Leu380Ser
Protein change:
L268S; LEU380SER
Links:
UniProtKB: P02545#VAR_063591; OMIM: 150330.0047; dbSNP: rs121912495
NCBI 1000 Genomes Browser:
rs121912495
Molecular consequence:
  • NM_001257374.3:c.803T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282624.2:c.896T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282625.2:c.1139T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282626.2:c.1139T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005572.4:c.1139T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170707.4:c.1139T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170708.4:c.1139T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital muscular dystrophy due to LMNA mutation
Synonyms:
Congenital muscular dystrophy, LMNA-related; Lamin A-related Congenital Muscular Dystrophy
Identifiers:
MONDO: MONDO:0013178; MedGen: C2750785; Orphanet: 157973; OMIM: 613205

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000035885OMIM
no assertion criteria provided
Pathogenic
(Aug 1, 2008) 		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

De novo LMNA mutations cause a new form of congenital muscular dystrophy.

Quijano-Roy S, Mbieleu B, Bönnemann CG, Jeannet PY, Colomer J, Clarke NF, Cuisset JM, Roper H, De Meirleir L, D'Amico A, Ben Yaou R, Nascimento A, Barois A, Demay L, Bertini E, Ferreiro A, Sewry CA, Romero NB, Ryan M, Muntoni F, Guicheney P, Richard P, et al.

Ann Neurol. 2008 Aug;64(2):177-86. doi: 10.1002/ana.21417.

PubMed [citation]
PMID:
18551513

Details of each submission

From OMIM, SCV000035885.2

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

Description

In a 7-year-old boy with a LMNA-related congenital muscular dystrophy (613205), Quijano-Roy et al. (2008) identified a de novo heterozygous mutation in exon 6 of the LMNA gene, resulting in a leu380-to-ser (L380S) substitution. He showed decreased movements in utero, hypotonia, talipes foot deformities, no head or trunk control, distal joint contractures, respiratory insufficiency, and paroxysmal atrial tachycardia. Serum creatine kinase was increased, and muscle biopsy showed dystrophic changes.

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

Last Updated: Nov 29, 2022