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NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) AND Catecholaminergic polymorphic ventricular tachycardia 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 19, 2014
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:
RCV000157295.4

Allele description [Variation Report for NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)]

NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)

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.1201C>T (p.Arg401Cys)
HGVS:
  • NC_000001.11:g.156136257C>T
  • NG_008692.2:g.58685C>T
  • NM_001257374.3:c.865C>T
  • NM_001282624.2:c.958C>T
  • NM_001282625.2:c.1201C>T
  • NM_001282626.2:c.1201C>T
  • NM_005572.4:c.1201C>T
  • NM_170707.4:c.1201C>TMANE SELECT
  • NM_170708.4:c.1201C>T
  • NP_001244303.1:p.Arg289Cys
  • NP_001269553.1:p.Arg320Cys
  • NP_001269554.1:p.Arg401Cys
  • NP_001269555.1:p.Arg401Cys
  • NP_005563.1:p.Arg401Cys
  • NP_005563.1:p.Arg401Cys
  • NP_733821.1:p.Arg401Cys
  • NP_733822.1:p.Arg401Cys
  • LRG_254t1:c.1201C>T
  • LRG_254t2:c.1201C>T
  • LRG_254:g.58685C>T
  • LRG_254p1:p.Arg401Cys
  • NC_000001.10:g.156106048C>T
  • NM_005572.3:c.1201C>T
  • NM_170707.2:c.1201C>T
  • NM_170707.3:c.1201C>T
  • P02545:p.Arg401Cys
  • c.1201C>T
Protein change:
R289C
Links:
UniProtKB: P02545#VAR_072818; dbSNP: rs61094188
NCBI 1000 Genomes Browser:
rs61094188
Molecular consequence:
  • NM_001257374.3:c.865C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282624.2:c.958C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282625.2:c.1201C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282626.2:c.1201C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005572.4:c.1201C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170707.4:c.1201C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170708.4:c.1201C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Catecholaminergic polymorphic ventricular tachycardia 1
Synonyms:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; Stress-induced polymorphic ventricular tachycardia; VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1
Identifiers:
MONDO: MONDO:0011484; MedGen: C1631597; Orphanet: 3286; OMIM: 604772

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000207027Blueprint Genetics
no assertion criteria provided
Uncertain significance
(Aug 19, 2014) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.

Muchir A, Medioni J, Laluc M, Massart C, Arimura T, van der Kooi AJ, Desguerre I, Mayer M, Ferrer X, Briault S, Hirano M, Worman HJ, Mallet A, Wehnert M, Schwartz K, Bonne G.

Muscle Nerve. 2004 Oct;30(4):444-50.

PubMed [citation]
PMID:
15372542

[Hauptmann-Thannhauser muscular dystrophy and differential diagnosis of myopathies associated with contractures].

Hanisch F, Neudecker S, Wehnert M, Zierz S.

Nervenarzt. 2002 Oct;73(10):1004-11. German.

PubMed [citation]
PMID:
12376891
See all PubMed Citations (3)

Details of each submission

From Blueprint Genetics, SCV000207027.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 7, 2024