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NM_000426.4(LAMA2):c.4523+1G>A

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 10, 2019
Accession:
VCV000092961.4
Variation ID:
92961
Description:
single nucleotide variant
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NM_000426.4(LAMA2):c.4523+1G>A

Allele ID
98868
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q22.33
Genomic location
6: 129349385 (GRCh38) GRCh38 UCSC
6: 129670530 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000426.3:c.4523+1G>A splice donor
NC_000006.11:g.129670530G>A
LRG_409:g.471245G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:129349384:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA220770
dbSNP: rs398123375
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 Feb 12, 2013 RCV000177512.1
Likely pathogenic 1 criteria provided, single submitter Sep 10, 2019 RCV001203362.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LAMA2 - - GRCh38
GRCh37
2291 2307

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Feb 12, 2013)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000229394.5
Submitted: (Jun 30, 2017)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely pathogenic
(Sep 10, 2019)
criteria provided, single submitter
Method: clinical testing
Laminin alpha 2-related dystrophy
Allele origin: germline
Invitae
Accession: SCV001374524.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change affects a donor splice site in intron 31 of the LAMA2 gene. It is expected to disrupt RNA splicing and likely results … (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
LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies. Løkken N Muscle & nerve 2015 PMID: 25663498
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. Oliveira J Clinical genetics 2008 PMID: 18700894
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=LAMA2 - - - -

Text-mined citations for rs398123375...

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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 30, 2021