NM_170707.4(LMNA):c.1130G>A (p.Arg377His) AND not provided

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Aug 25, 2019
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000057235.10

Allele description [Variation Report for NM_170707.4(LMNA):c.1130G>A (p.Arg377His)]

NM_170707.4(LMNA):c.1130G>A (p.Arg377His)

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.1130G>A (p.Arg377His)

HGVS:

NC_000001.11:g.156136094G>A
NG_008692.2:g.58522G>A
NM_001257374.3:c.794G>A
NM_001282624.2:c.887G>A
NM_001282625.2:c.1130G>A
NM_001282626.2:c.1130G>A
NM_005572.4:c.1130G>A
NM_170707.4:c.1130G>AMANE SELECT
NM_170708.4:c.1130G>A
NP_001244303.1:p.Arg265His
NP_001269553.1:p.Arg296His
NP_001269554.1:p.Arg377His
NP_001269555.1:p.Arg377His
NP_005563.1:p.Arg377His
NP_733821.1:p.Arg377His
NP_733822.1:p.Arg377His
LRG_254t2:c.1130G>A
LRG_254t3:c.1130G>A
LRG_254:g.58522G>A
NC_000001.10:g.156105885G>A
NM_170707.2:c.1130G>A
NM_170707.3:c.1130G>A
NM_170708.2:c.1130G>A
P02545:p.Arg377His

Protein change:

R265H; ARG377HIS

Links:

UniProtKB: P02545#VAR_016205; OMIM: 150330.0017; dbSNP: rs61672878

NCBI 1000 Genomes Browser:

rs61672878

Molecular consequence:

NM_001257374.3:c.794G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282624.2:c.887G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282625.2:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282626.2:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005572.4:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_170707.4:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_170708.4:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000088348	Epithelial Biology; Institute of Medical Biology, Singapore	no classification provided	not provided	not provided	not provided
SCV000707955	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Pathogenic (May 7, 2018)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 10814726, 12628721, 12673789, 12920062, 24990833, 27220833 Citation Link,
SCV002017157	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 25, 2019)	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

SCV000088348

Epithelial Biology; Institute of Medical Biology, Singapore

no classification provided

not provided

SCV000707955

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)

Pathogenic
(May 7, 2018)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link,

SCV002017157

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 25, 2019)

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	2	not provided	not provided	not provided	not provided	clinical testing
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).

Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, de Visser M, Schwartz K.

Hum Mol Genet. 2000 May 22;9(9):1453-9.

PubMed [citation]

PMID:: 10814726

Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.

Taylor MR, Fain PR, Sinagra G, Robinson ML, Robertson AD, Carniel E, Di Lenarda A, Bohlmeyer TJ, Ferguson DA, Brodsky GL, Boucek MM, Lascor J, Moss AC, Li WL, Stetler GL, Muntoni F, Bristow MR, Mestroni L; Familial Dilated Cardiomyopathy Registry Research Group..

J Am Coll Cardiol. 2003 Mar 5;41(5):771-80. Erratum in: J Am Coll Cardiol. 2003 Aug 6;42(3):590.

PubMed [citation]

PMID:: 12628721

See all PubMed Citations (7)

Details of each submission

From Epithelial Biology; Institute of Medical Biology, Singapore, SCV000088348.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	not provided

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

From Eurofins Ntd Llc (ga), SCV000707955.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (6)

#	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		2	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV002017157.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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