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NM_014000.3(VCL):c.1559G>A (p.Arg520Gln) AND Cardiac arrest

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 17, 2017
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:
RCV000991075.1

Allele description [Variation Report for NM_014000.3(VCL):c.1559G>A (p.Arg520Gln)]

NM_014000.3(VCL):c.1559G>A (p.Arg520Gln)

Gene:
VCL:vinculin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.2
Genomic location:
Preferred name:
NM_014000.3(VCL):c.1559G>A (p.Arg520Gln)
Other names:
p.Arg520Gln
HGVS:
  • NC_000010.11:g.74095671G>A
  • NG_008868.1:g.102558G>A
  • NM_003373.4:c.1559G>A
  • NM_014000.3:c.1559G>AMANE SELECT
  • NP_003364.1:p.Arg520Gln
  • NP_054706.1:p.Arg520Gln
  • NP_054706.1:p.Arg520Gln
  • LRG_383t1:c.1559G>A
  • LRG_383:g.102558G>A
  • LRG_383p1:p.Arg520Gln
  • NC_000010.10:g.75855429G>A
  • NM_014000.2:c.1559G>A
Protein change:
R520Q
Links:
dbSNP: rs757009736
NCBI 1000 Genomes Browser:
rs757009736
Molecular consequence:
  • NM_003373.4:c.1559G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014000.3:c.1559G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiac arrest
Identifiers:
MONDO: MONDO:0000745; MedGen: C0018790; Human Phenotype Ontology: HP:0001695

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001142211Agnes Ginges Centre for Molecular Cardiology, Centenary Institute
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 17, 2017) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, SCV001142211.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

The VCL Arg520Gln is absent in the large Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/). Arginine (Arg) at position 520 is highly conserved across distantly related species, and computational prediction tools are supportive of a deleterious effect (SIFT "deleterious"; PolyPhen-2 "probably damaging"; MutationTaster "disease-causing"). We have identified this variant in 1 patient who had an unexplained resuscitated cardiac arrest event. The patient has no family history of a genetic heart condition or sudden cardiac death. Based on limited available information and rarity in the general population, we classify VCL Arg520Gln as a variant of "uncertain significance".

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 6, 2024