NM_170707.4(LMNA):c.937-8C>G AND Primary dilated cardiomyopathy

Germline classification:: Uncertain significance (1 submission)
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:: RCV003231611.1

Allele description [Variation Report for NM_170707.4(LMNA):c.937-8C>G]

NM_170707.4(LMNA):c.937-8C>G

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.937-8C>G

HGVS:

NC_000001.11:g.156135893C>G
NG_008692.2:g.58321C>G
NM_001257374.3:c.601-8C>G
NM_001282624.2:c.694-8C>G
NM_001282625.2:c.937-8C>G
NM_001282626.2:c.937-8C>G
NM_005572.4:c.937-8C>G
NM_170707.4:c.937-8C>GMANE SELECT
NM_170708.4:c.937-8C>G
LRG_254t2:c.937-8C>G
LRG_254:g.58321C>G
NC_000001.10:g.156105684C>G
NM_170707.2:c.937-8C>G

Links:

dbSNP: rs751707982

NCBI 1000 Genomes Browser:

rs751707982

Molecular consequence:

NM_001257374.3:c.601-8C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001282624.2:c.694-8C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001282625.2:c.937-8C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001282626.2:c.937-8C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_005572.4:c.937-8C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_170707.4:c.937-8C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_170708.4:c.937-8C>G - intron variant - [Sequence Ontology: SO:0001627]

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
SCV003928182	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

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003928182

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
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 (5)

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV003928182.1

#	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 rs751707982, 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

Last Updated: Sep 29, 2024

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