NM_170707.4(LMNA):c.467G>A (p.Arg156His) AND Cardiomyopathy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 3, 2024
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:: RCV001526029.3

Allele description [Variation Report for NM_170707.4(LMNA):c.467G>A (p.Arg156His)]

NM_170707.4(LMNA):c.467G>A (p.Arg156His)

Genes:

LOC126805877:MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 [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.467G>A (p.Arg156His)

HGVS:

NC_000001.11:g.156130727G>A
NG_008692.2:g.53155G>A
NM_001257374.3:c.131G>A
NM_001282624.2:c.224G>A
NM_001282625.2:c.467G>A
NM_001282626.2:c.467G>A
NM_005572.4:c.467G>A
NM_170707.4:c.467G>AMANE SELECT
NM_170708.4:c.467G>A
NP_001244303.1:p.Arg44His
NP_001269553.1:p.Arg75His
NP_001269554.1:p.Arg156His
NP_001269555.1:p.Arg156His
NP_005563.1:p.Arg156His
NP_733821.1:p.Arg156His
NP_733822.1:p.Arg156His
LRG_254t2:c.467G>A
LRG_254:g.53155G>A
NC_000001.10:g.156100518G>A
NM_170707.2:c.467G>A
NM_170707.3:c.467G>A

Protein change:

R156H

Links:

dbSNP: rs764475194

NCBI 1000 Genomes Browser:

rs764475194

Molecular consequence:

NM_001257374.3:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282624.2:c.224G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282625.2:c.467G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282626.2:c.467G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005572.4:c.467G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_170707.4:c.467G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_170708.4:c.467G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiomyopathy (CMYO)
Synonyms:: Cardiomyopathies
Identifiers:: MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001736292	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 3, 2024)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 30287275, 35449878, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001736292

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 3, 2024)

germline

clinical testing

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

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

Cardiometabolic assessment of lamin A/C gene mutation carriers: a phenotype-genotype correlation.

Kwapich M, Lacroix D, Espiard S, Ninni S, Brigadeau F, Kouakam C, Degroote P, Laurent JM, Tiffreau V, Jannin A, Humbert L, Ben Hamou A, Tard C, Ben Yaou R, Lamblin N, Klug D, Richard P, Vigouroux C, Bonne G, Vantyghem MC; Diamenord–AEDNL Working Group..

Diabetes Metab. 2019 Sep;45(4):382-389. doi: 10.1016/j.diabet.2018.09.006. Epub 2018 Oct 1.

PubMed [citation]

PMID:: 30287275

Effect of Occurrence of Lamin A/C (LMNA) Genetic Variants in a Cohort of 101 Consecutive Apparent "Lone AF" Patients: Results and Insights.

Pessente GD, Sacilotto L, Calil ZO, Olivetti NQS, Wulkan F, de Oliveira TGM, Pedrosa AAA, Wu TC, Hachul DT, Scanavacca MI, Krieger JE, Darrieux FCDC, Pereira ADC.

Front Cardiovasc Med. 2022;9:823717. doi: 10.3389/fcvm.2022.823717.

PubMed [citation]

PMID:: 35449878
PMCID:: PMC9016147

See all PubMed Citations (3)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV001736292.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This missense variant replaces arginine with histidine at codon 156 of the LMNA protein. Computational prediction tools indicate that this variant has a deleterious impact on protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in one individual affected with atrial fibrillation (PMID: 35449878) and in one individual affected with familial partial lipodystrophy (PMID: 30287275). This variant has been identified in 1/243558 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#	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: May 7, 2024

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