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NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 17, 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:
RCV001823746.1

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)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002073430Phosphorus, Inc.
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 17, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Phosphorus, Inc., SCV002073430.1

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

Description

This missense variant results in an amino acid substitution of arginine with tryptophan at codon 343 of the LMNA gene. The variant has an entry in ClinVar (656550) NM_170707.4 (LMNA): c.1027C>T (p.Arg343Trp) and has occurred in GnomAD with a total MAF of 0.0004%. This position is not conserved. In silico functional algorithms agreed, with PolyPhen calling it probably damaging, and SIFT deleterious, but no functional studies were performed to confirm these predictions. This variant has previously been reported in an individual affected with an individual affected with sudden cardiac death (PMID: 27332903). Further evidence is needed to establish whether this variant contributes to disease formation. The variant has therefore been classified as a Variant of Uncertain Significance.

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

Last Updated: May 7, 2024