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NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 26, 2022
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:
RCV002381813.2

Allele description [Variation Report for NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)]

NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)

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.1027C>T (p.Arg343Trp)
HGVS:
  • NC_000001.11:g.156135991C>T
  • NG_008692.2:g.58419C>T
  • NM_001257374.3:c.691C>T
  • NM_001282624.2:c.784C>T
  • NM_001282625.2:c.1027C>T
  • NM_001282626.2:c.1027C>T
  • NM_005572.4:c.1027C>T
  • NM_170707.4:c.1027C>TMANE SELECT
  • NM_170708.4:c.1027C>T
  • NP_001244303.1:p.Arg231Trp
  • NP_001269553.1:p.Arg262Trp
  • NP_001269554.1:p.Arg343Trp
  • NP_001269555.1:p.Arg343Trp
  • NP_005563.1:p.Arg343Trp
  • NP_005563.1:p.Arg343Trp
  • NP_733821.1:p.Arg343Trp
  • NP_733822.1:p.Arg343Trp
  • LRG_254t1:c.1027C>T
  • LRG_254t2:c.1027C>T
  • LRG_254:g.58419C>T
  • LRG_254p1:p.Arg343Trp
  • NC_000001.10:g.156105782C>T
  • NM_005572.3:c.1027C>T
  • NM_170707.2:c.1027C>T
  • NM_170707.3:c.1027C>T
Protein change:
R231W
Links:
dbSNP: rs749784223
NCBI 1000 Genomes Browser:
rs749784223
Molecular consequence:
  • NM_001257374.3:c.691C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282624.2:c.784C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282625.2:c.1027C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282626.2:c.1027C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005572.4:c.1027C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170707.4:c.1027C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170708.4:c.1027C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002693278Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 26, 2022) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A Prospective Study of Sudden Cardiac Death among Children and Young Adults.

Bagnall RD, Weintraub RG, Ingles J, Duflou J, Yeates L, Lam L, Davis AM, Thompson T, Connell V, Wallace J, Naylor C, Crawford J, Love DR, Hallam L, White J, Lawrence C, Lynch M, Morgan N, James P, du Sart D, Puranik R, Langlois N, et al.

N Engl J Med. 2016 Jun 23;374(25):2441-52. doi: 10.1056/NEJMoa1510687.

PubMed [citation]
PMID:
27332903

Details of each submission

From Ambry Genetics, SCV002693278.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.R343W variant (also known as c.1027C>T), located in coding exon 6 of the LMNA gene, results from a C to T substitution at nucleotide position 1027. The arginine at codon 343 is replaced by tryptophan, an amino acid with dissimilar properties, and is located in the LAP2alpha binding domain. This variant was reported in an individual with Emery-Dreifuss muscular dystrophy and in a sudden cardiac death case; however, clinical details were limited in both cases (Fokkema IF et al. Hum. Mutat., 2011 May;32:557-63; Bagnall RD et al. N. Engl. J. Med., 2016 Jun;374:2441-52). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024