NM_005572.4(LMNA):c.1712G>A (p.Arg571His) AND Primary dilated cardiomyopathy

Germline classification:: Conflicting classifications of pathogenicity (2 submissions)
Last evaluated:: Dec 18, 2023
Review status:: criteria provided, conflicting classifications

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:: RCV002464010.4

Allele description [Variation Report for NM_005572.4(LMNA):c.1712G>A (p.Arg571His)]

NM_005572.4(LMNA):c.1712G>A (p.Arg571His)

Gene:

LMNA:lamin A/C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

Preferred name:

NM_005572.4(LMNA):c.1712G>A (p.Arg571His)

HGVS:

NC_000001.11:g.156137757G>A
NG_008692.2:g.60185G>A
NM_001257374.3:c.1362+14G>A
NM_001282624.2:c.1469G>A
NM_001282625.2:c.1712G>A
NM_001282626.2:c.1698+14G>A
NM_005572.4:c.1712G>A
NM_170707.4:c.1698+14G>AMANE SELECT
NM_170708.4:c.1608+525G>A
NP_001269553.1:p.Arg490His
NP_001269554.1:p.Arg571His
NP_005563.1:p.Arg571His
NP_005563.1:p.Arg571His
LRG_254t1:c.1712G>A
LRG_254t2:c.1698+14G>A
LRG_254:g.60185G>A
LRG_254p1:p.Arg571His
NC_000001.10:g.156107548G>A
NM_005572.3:c.1712G>A
NM_170707.2:c.1698+14G>A

Protein change:

R490H

Links:

dbSNP: rs200917748

NCBI 1000 Genomes Browser:

rs200917748

Molecular consequence:

NM_001257374.3:c.1362+14G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001282626.2:c.1698+14G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_170707.4:c.1698+14G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_170708.4:c.1608+525G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001282624.2:c.1469G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282625.2:c.1712G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005572.4:c.1712G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Primary dilated cardiomyopathy (DCM)
Synonyms:: Dilated Cardiomyopathy
Identifiers:: EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002605293	Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	criteria provided, single submitter (K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)	Uncertain significance	unknown	research	PubMed (5) [See all records that cite these PMIDs] 11102973, 33407844, 32818388, 29952368, 29237675 Citation Link,
SCV004826800	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Dec 18, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002605293

Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

criteria provided, single submitter

(K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)

Uncertain significance

unknown

research

PubMed (5)
[See all records that cite these PMIDs]

Citation Link,

SCV004826800

All of Us Research Program, National Institutes of Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Dec 18, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	16	not provided	not provided	108544	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Mutations in the LMNA gene encoding lamin A/C.

Genschel J, Schmidt HH.

Hum Mutat. 2000 Dec;16(6):451-9. Review.

PubMed [citation]

PMID:: 11102973

Integrated analysis reveals the alterations that LMNA interacts with euchromatin in LMNA mutation-associated dilated cardiomyopathy.

Zhang X, Shao X, Zhang R, Zhu R, Feng R.

Clin Epigenetics. 2021 Jan 6;13(1):3. doi: 10.1186/s13148-020-00996-1.

PubMed [citation]

PMID:: 33407844
PMCID:: PMC7788725

See all PubMed Citations (6)

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002605293.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	research	PubMed (5)

Description

Potent mutations in LMNA gene can lead to structural alteration in skeletal and cardiac muscle by altering the structure of Lamin A and Lamin C. It is associated with dilated cardiomyopathy and skeletal muscle dystrophies. However no sufficient evidence is found to ascertain the role of this particular variant rs200917748, yet.

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

From All of Us Research Program, National Institutes of Health, SCV004826800.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	16	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	108544	not provided	not provided		16	not provided	not provided	not provided

Last Updated: Mar 16, 2025

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