NM_144573.3(NEXN):c.1619T>C (p.Met540Thr) AND Primary dilated cardiomyopathy

Clinical significance:Uncertain significance (Last evaluated: Jul 3, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000853122.1

Allele description [Variation Report for NM_144573.3(NEXN):c.1619T>C (p.Met540Thr)]

NM_144573.3(NEXN):c.1619T>C (p.Met540Thr)

Gene:
NEXN:nexilin F-actin binding protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.1
Genomic location:
Preferred name:
NM_144573.3(NEXN):c.1619T>C (p.Met540Thr)
HGVS:
  • NC_000001.11:g.77942168T>C
  • NG_016625.1:g.58654T>C
  • NG_033243.2:g.41926A>G
  • NM_001172309.1:c.1427T>C
  • NM_144573.3:c.1619T>C
  • NP_001165780.1:p.Met476Thr
  • NP_653174.3:p.Met540Thr
  • LRG_442t1:c.1619T>C
  • LRG_442:g.58654T>C
  • LRG_442p1:p.Met540Thr
  • LRG_995:g.41926A>G
  • NC_000001.10:g.78407853T>C
Protein change:
M476T
Links:
dbSNP: rs531641059
NCBI 1000 Genomes Browser:
rs531641059
Molecular consequence:
  • NM_001172309.1:c.1427T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144573.3:c.1619T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Congestive cardiomyopathy; Dilated Cardiomyopathy
Identifiers:
EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000995833Klaassen Lab,Charite University Medicine Berlincriteria provided, single submitter
Uncertain significance
(Jul 3, 2019)
germlineresearch

PubMed (3)
[See all records that cite these PMIDs]

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

RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy.

Al-Wakeel-Marquard N, Degener F, Herbst C, K├╝hnisch J, Dartsch J, Schmitt B, Kuehne T, Messroghli D, Berger F, Klaassen S.

J Am Heart Assoc. 2019 Aug 6;8(15):e012531. doi: 10.1161/JAHA.119.012531. Epub 2019 Jul 23.

PubMed [citation]
PMID:
31333075
PMCID:
PMC6761660
See all PubMed Citations (3)

Details of each submission

From Klaassen Lab,Charite University Medicine Berlin, SCV000995833.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2021

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