NM_013995.2(LAMP2):c.138G>A (p.Trp46Ter) AND Danon disease

Clinical significance:Pathogenic (Last evaluated: Sep 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000679872.1

Allele description [Variation Report for NM_013995.2(LAMP2):c.138G>A (p.Trp46Ter)]

NM_013995.2(LAMP2):c.138G>A (p.Trp46Ter)

Gene:
LAMP2:lysosomal associated membrane protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq24
Genomic location:
Preferred name:
NM_013995.2(LAMP2):c.138G>A (p.Trp46Ter)
HGVS:
  • NC_000023.11:g.120456696C>T
  • NG_007995.1:g.17654G>A
  • NM_001122606.1:c.138G>A
  • NM_002294.2:c.138G>A
  • NM_013995.2:c.138G>A
  • NP_001116078.1:p.Trp46Ter
  • NP_002285.1:p.Trp46Ter
  • NP_054701.1:p.Trp46Ter
  • LRG_749t1:c.138G>A
  • LRG_749t2:c.138G>A
  • LRG_749t3:c.138G>A
  • LRG_749:g.17654G>A
  • LRG_749p1:p.Trp46Ter
  • LRG_749p2:p.Trp46Ter
  • LRG_749p3:p.Trp46Ter
  • NC_000023.10:g.119590551C>T
Protein change:
W46*
Links:
dbSNP: rs1271031981
NCBI 1000 Genomes Browser:
rs1271031981
Molecular consequence:
  • NM_001122606.1:c.138G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_002294.2:c.138G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_013995.2:c.138G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Danon disease
Synonyms:
PSEUDOGLYCOGENOSIS II; GSD IIb; LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010281; MedGen: C0878677; Orphanet: 34587; OMIM: 300257

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000807250Baylor Geneticscriteria provided, single submitter
Pathogenic
(Sep 1, 2017)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene.

Balmer C, Ballhausen D, Bosshard NU, Steinmann B, Boltshauser E, Bauersfeld U, Superti-Furga A.

Eur J Pediatr. 2005 Aug;164(8):509-14. Epub 2005 May 12.

PubMed [citation]
PMID:
15889279

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
See all PubMed Citations (3)

Details of each submission

From Baylor Genetics, SCV000807250.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing
(GTR000508680.4)
PubMed (3)

Description

This mutation has been previously reported as disease-causing and was found once in our laboratory de novo in a 4-year-old female with profound microcephaly, growth delay, seizure, severe hypertrophic cardiomyopathy, Wolff-ParkinsonWhite syndrome, mild optic nerve pallor, cortical visual impairment, encephalomalacia

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided
(GTR000508680.4)
not providednot providednot providednot provided

Last Updated: Oct 7, 2021

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