NM_014000.3(VCL):c.952C>T (p.Arg318Cys) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 29, 2023
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:: RCV003372609.1

Allele description [Variation Report for NM_014000.3(VCL):c.952C>T (p.Arg318Cys)]

NM_014000.3(VCL):c.952C>T (p.Arg318Cys)

Gene:

VCL:vinculin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.2

Genomic location:

Preferred name:

NM_014000.3(VCL):c.952C>T (p.Arg318Cys)

HGVS:

NC_000010.11:g.74083443C>T
NG_008868.1:g.90330C>T
NM_003373.4:c.952C>T
NM_014000.3:c.952C>TMANE SELECT
NP_003364.1:p.Arg318Cys
NP_054706.1:p.Arg318Cys
NP_054706.1:p.Arg318Cys
LRG_383t1:c.952C>T
LRG_383:g.90330C>T
LRG_383p1:p.Arg318Cys
NC_000010.10:g.75843201C>T
NM_014000.2:c.952C>T
c.952C>T

Protein change:

R318C

Links:

dbSNP: rs397517247

NCBI 1000 Genomes Browser:

rs397517247

Molecular consequence:

NM_003373.4:c.952C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_014000.3:c.952C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004062432	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (Jun 29, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004062432

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(Jun 29, 2023)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV004062432.1

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

Description

The p.R318C variant (also known as c.952C>T), located in coding exon 8 of the VCL gene, results from a C to T substitution at nucleotide position 952. The arginine at codon 318 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

#	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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