NM_014000.3(VCL):c.829C>A (p.Leu277Met) AND Hypertrophic cardiomyopathy 15

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 7, 2006
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000012982.16

Allele description [Variation Report for NM_014000.3(VCL):c.829C>A (p.Leu277Met)]

NM_014000.3(VCL):c.829C>A (p.Leu277Met)

Gene:

VCL:vinculin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.2

Genomic location:

Preferred name:

NM_014000.3(VCL):c.829C>A (p.Leu277Met)

HGVS:

NC_000010.11:g.74082499C>A
NG_008868.1:g.89386C>A
NM_003373.4:c.829C>A
NM_014000.3:c.829C>AMANE SELECT
NP_003364.1:p.Leu277Met
NP_054706.1:p.Leu277Met
NP_054706.1:p.Leu277Met
LRG_383t1:c.829C>A
LRG_383:g.89386C>A
LRG_383p1:p.Leu277Met
NC_000010.10:g.75842257C>A
NM_014000.2:c.829C>A
P18206:p.Leu277Met

Protein change:

L277M; LEU277MET

Links:

UniProtKB: P18206#VAR_035101; OMIM: 193065.0003; dbSNP: rs71579353

NCBI 1000 Genomes Browser:

rs71579353

Molecular consequence:

NM_003373.4:c.829C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_014000.3:c.829C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hypertrophic cardiomyopathy 15
Synonyms:: Familial hypertrophic cardiomyopathy 15
Identifiers:: MONDO: MONDO:0013200; MedGen: C2750459; OMIM: 613255

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
SCV000033227	OMIM	no assertion criteria provided	Pathogenic (Jul 7, 2006)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000033227

OMIM

no assertion criteria provided

Pathogenic
(Jul 7, 2006)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy.

Vasile VC, Ommen SR, Edwards WD, Ackerman MJ.

Biochem Biophys Res Commun. 2006 Jul 7;345(3):998-1003. Epub 2006 May 4.

PubMed [citation]

PMID:: 16712796

Details of each submission

From OMIM, SCV000033227.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 76-year-old Caucasian woman with severely obstructive hypertrophic cardiomyopathy (CMH15; 613255), Vasile et al. (2006) identified a heterozygous 829C-A transversion in exon 8 of the VCL gene, resulting in a leu277-to-met (L277M) substitution at a conserved residue in a key functional domain. The mutation was not detected in 400 reference alleles. Immunostaining of myomectomy tissue from the patient showed normal Z line staining but markedly reduced vinculin/metavinculin staining in the intercalated discs.

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine