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NM_000426.3(LAMA2):c.8728G>A (p.Val2910Ile)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Sep 1, 2021)
Last evaluated:
Dec 8, 2020
Accession:
VCV000355304.7
Variation ID:
355304
Description:
single nucleotide variant
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NM_000426.3(LAMA2):c.8728G>A (p.Val2910Ile)

Allele ID
298980
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q22.33
Genomic location
6: 129507513 (GRCh38) GRCh38 UCSC
6: 129828658 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_409t1:c.8728G>A LRG_409p1:p.Val2910Ile
LRG_409:g.629373G>A
NC_000006.11:g.129828658G>A
... more HGVS
Protein change
V2910I, V2906I
Other names
-
Canonical SPDI
NC_000006.12:129507512:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (A)

Allele frequency
1000 Genomes Project 0.00120
Trans-Omics for Precision Medicine (TOPMed) 0.00166
Exome Aggregation Consortium (ExAC) 0.00057
The Genome Aggregation Database (gnomAD) 0.00150
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00192
Links
ClinGen: CA3994908
dbSNP: rs141479751
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV000381871.2
Uncertain significance 3 criteria provided, single submitter Oct 28, 2016 RCV000593173.5
Likely benign 1 criteria provided, single submitter Dec 8, 2020 RCV001081806.2
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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
2243 2259

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Congenital muscular dystrophy due to partial LAMA2 deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000460091.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Oct 28, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000700577.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
Laminin alpha 2-related dystrophy
Allele origin: germline
Invitae
Accession: SCV000776662.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Study: VKGL Data-share Consensus
Accession: SCV001800738.1
Submitted: (Aug 19, 2021)
Evidence details
Likely benign
(Mar 05, 2021)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001818889.1
Submitted: (Sep 01, 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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=LAMA2 - - - -

Text-mined citations for rs141479751...

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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 Sep 07, 2021