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NM_000426.4(LAMA2):c.112+1G>A

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Nov 19, 2021)
Last evaluated:
Aug 20, 2020
Accession:
VCV000092937.5
Variation ID:
92937
Description:
single nucleotide variant
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NM_000426.4(LAMA2):c.112+1G>A

Allele ID
98844
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q22.33
Genomic location
6: 128883358 (GRCh38) GRCh38 UCSC
6: 129204503 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_409:g.5218G>A
LRG_409t1:c.112+1G>A
NC_000006.11:g.129204503G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:128883357:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00001
Links
ClinGen: CA220740
dbSNP: rs398123367
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Oct 19, 2017 RCV000173130.2
Pathogenic 2 criteria provided, single submitter Nov 23, 2014 RCV000790741.2
Likely pathogenic 1 criteria provided, single submitter Aug 20, 2020 RCV001064438.2
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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
2312 2328

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Oct 19, 2017)
criteria provided, single submitter
Method: clinical testing
Merosin deficient congenital muscular dystrophy
Allele origin: unknown
Counsyl
Accession: SCV000794936.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Pathogenic
(Nov 23, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000224218.5
Submitted: (Jun 30, 2017)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely pathogenic
(Aug 20, 2020)
criteria provided, single submitter
Method: clinical testing
Laminin alpha 2-related dystrophy
Allele origin: germline
Invitae
Accession: SCV001229341.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change affects a donor splice site in intron 1 of the LAMA2 gene. It is expected to disrupt RNA splicing and likely results … (more)
Pathogenic
(Aug 21, 2020)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
PerkinElmer Genomics
Accession: SCV002016434.1
Submitted: (Nov 19, 2021)
Evidence details

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
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Geranmayeh F Neuromuscular disorders : NMD 2010 PMID: 20207543
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 rs398123367...

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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 Nov 28, 2021