NM_170707.3(LMNA):c.1567G>A (p.Gly523Arg) AND Cardiovascular phenotype

Clinical significance:Uncertain significance (Last evaluated: Nov 12, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000245950.1

Allele description [Variation Report for NM_170707.3(LMNA):c.1567G>A (p.Gly523Arg)]

NM_170707.3(LMNA):c.1567G>A (p.Gly523Arg)

Gene:
LMNA:lamin A/C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_170707.3(LMNA):c.1567G>A (p.Gly523Arg)
HGVS:
  • NC_000001.11:g.156137191G>A
  • NG_008692.2:g.59619G>A
  • NM_005572.3:c.1567G>A
  • NM_170707.3:c.1567G>A
  • NM_170708.3:c.1567G>A
  • NP_005563.1:p.Gly523Arg
  • NP_733821.1:p.Gly523Arg
  • NP_733822.1:p.Gly523Arg
  • LRG_254t1:c.1567G>A
  • LRG_254t2:c.1567G>A
  • LRG_254:g.59619G>A
  • LRG_254p1:p.Gly523Arg
  • LRG_254p2:p.Gly523Arg
  • LRG_254p3:p.Gly523Arg
  • NC_000001.10:g.156106982G>A
  • NM_170707.2:c.1567G>A
  • P02545:p.Gly523Arg
  • c.1567G>A
Protein change:
G523R
Links:
UniProtKB: P02545#VAR_067258; dbSNP: rs201583907
NCBI 1000 Genomes Browser:
rs201583907
Molecular consequence:
  • NM_170707.3:c.1567G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000320458Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Nov 12, 2015)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH.

Genet Med. 2014 Aug;16(8):601-8. doi: 10.1038/gim.2013.204. Epub 2014 Feb 6.

PubMed [citation]
PMID:
24503780

Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene.

Millat G, Chanavat V, Julia S, Crehalet H, Bouvagnet P, Rousson R.

Clin Biochem. 2009 Jun;42(9):892-8. doi: 10.1016/j.clinbiochem.2009.01.016. Epub 2009 Feb 6.

PubMed [citation]
PMID:
19318026
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV000320458.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (5)

Description

Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Insufficient or conflicting evidence

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2019

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