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NM_000426.3(LAMA2):c.6629T>C (p.Val2210Ala)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 21, 2020
Accession:
VCV000197558.5
Variation ID:
197558
Description:
single nucleotide variant
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NM_000426.3(LAMA2):c.6629T>C (p.Val2210Ala)

Allele ID
194719
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q22.33
Genomic location
6: 129454210 (GRCh38) GRCh38 UCSC
6: 129775355 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.129775355T>C
NC_000006.12:g.129454210T>C
NM_000426.3:c.6629T>C NP_000417.2:p.Val2210Ala missense
... more HGVS
Protein change
V2210A
Other names
-
Canonical SPDI
NC_000006.12:129454209:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00089
1000 Genomes Project 0.00060
Exome Aggregation Consortium (ExAC) 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00018
Trans-Omics for Precision Medicine (TOPMed) 0.00068
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00038
Links
ClinGen: CA245792
dbSNP: rs78880369
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 May 30, 2018 RCV000178615.4
Likely benign 1 criteria provided, single submitter Oct 21, 2020 RCV001082197.2
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001152900.1
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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
2243 2259

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 30, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000230730.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jan 13, 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: SCV001314139.1
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)
Likely benign
(Oct 21, 2020)
criteria provided, single submitter
Method: clinical testing
Laminin alpha 2-related dystrophy
Allele origin: germline
Invitae
Accession: SCV000658744.4
Submitted: (Jan 07, 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 rs78880369...

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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 May 16, 2021