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NM_002294.3(LAMP2):c.138G>A (p.Trp46Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 16, 2017)
Last evaluated:
Sep 1, 2017
Accession:
VCV000560927.1
Variation ID:
560927
Description:
single nucleotide variant
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NM_002294.3(LAMP2):c.138G>A (p.Trp46Ter)

Allele ID
552241
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq24
Genomic location
X: 120456696 (GRCh38) GRCh38 UCSC
X: 119590551 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_749:g.17654G>A
LRG_749t3:c.138G>A LRG_749p3:p.Trp46Ter
LRG_749t1:c.138G>A LRG_749p1:p.Trp46Ter
... more HGVS
Protein change
W46*
Other names
-
Canonical SPDI
NC_000023.11:120456695:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1271031981
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Sep 1, 2017 RCV000679872.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LAMP2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
453 621

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 01, 2017)
criteria provided, single submitter
Method: clinical testing
Danon disease
(X-linked inheritance)
Allele origin: de novo
Baylor Genetics
Accession: SCV000807250.1
Submitted: (Oct 16, 2017)
Evidence details
Publications
PubMed (2)
Comment:
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 … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Molecular findings among patients referred for clinical whole-exome sequencing. Yang Y JAMA 2014 PMID: 25326635
Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene. Balmer C European journal of pediatrics 2005 PMID: 15889279

Text-mined citations for rs1271031981...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021