NM_170707.4(LMNA):c.566G>A (p.Arg189Gln) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 20, 2023
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:: RCV004022516.1

Allele description [Variation Report for NM_170707.4(LMNA):c.566G>A (p.Arg189Gln)]

NM_170707.4(LMNA):c.566G>A (p.Arg189Gln)

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.566G>A (p.Arg189Gln)

HGVS:

NC_000001.11:g.156134455G>A
NG_008692.2:g.56883G>A
NM_001257374.3:c.230G>A
NM_001282624.2:c.323G>A
NM_001282625.2:c.566G>A
NM_001282626.2:c.566G>A
NM_005572.4:c.566G>A
NM_170707.4:c.566G>AMANE SELECT
NM_170708.4:c.566G>A
NP_001244303.1:p.Arg77Gln
NP_001269553.1:p.Arg108Gln
NP_001269554.1:p.Arg189Gln
NP_001269555.1:p.Arg189Gln
NP_005563.1:p.Arg189Gln
NP_733821.1:p.Arg189Gln
NP_733822.1:p.Arg189Gln
LRG_254t2:c.566G>A
LRG_254:g.56883G>A
NC_000001.10:g.156104246G>A
NM_170707.2:c.566G>A
NM_170707.3:c.566G>A

Protein change:

R108Q

Links:

dbSNP: rs766856162

NCBI 1000 Genomes Browser:

rs766856162

Molecular consequence:

NM_001257374.3:c.230G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282624.2:c.323G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282625.2:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282626.2:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005572.4:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_170707.4:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_170708.4:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005030838	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 20, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 34011823, 34768595 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005030838

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 20, 2023)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Genetic Determinants and Genotype-Phenotype Correlations in Vietnamese Patients With Dilated Cardiomyopathy.

Nguyen TV, Tran Vu MT, Do TNP, Tran THN, Do TH, Nguyen TMH, Tran Huynh BN, Le LA, Nguyen Pham NT, Nguyen TDA, Nguyen TMN, Le NHP, Pham Nguyen V, Ho Huynh TD.

Circ J. 2021 Aug 25;85(9):1469-1478. doi: 10.1253/circj.CJ-21-0077. Epub 2021 May 20.

PubMed [citation]

PMID:: 34011823

Clinical Features of LMNA-Related Cardiomyopathy in 18 Patients and Characterization of Two Novel Variants.

Ferradini V, Cosma J, Romeo F, De Masi C, Murdocca M, Spitalieri P, Mannucci S, Parlapiano G, Di Lorenzo F, Martino A, Fedele F, Calò L, Novelli G, Sangiuolo F, Mango R.

J Clin Med. 2021 Oct 29;10(21). doi:pii: 5075. 10.3390/jcm10215075.

PubMed [citation]

PMID:: 34768595
PMCID:: PMC8584896

Details of each submission

From Ambry Genetics, SCV005030838.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The p.R189Q variant (also known as c.566G>A), located in coding exon 3 of the LMNA gene, results from a G to A substitution at nucleotide position 566. The arginine at codon 189 is replaced by glutamine, an amino acid with highly similar properties. This alteration has been reported in association with dilated cardiomyopathy (DCM) (Ferradini V et al. J Clin Med, 2021 Oct;10; Nguyen TV et al. Circ J, 2021 Aug;85:1469-1478). This amino acid position is highly 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine