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NM_198129.4(LAMA3):c.8203C>T (p.Arg2735Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 23, 2016)
Last evaluated:
Nov 3, 2016
Accession:
VCV000370076.1
Variation ID:
370076
Description:
single nucleotide variant
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NM_198129.4(LAMA3):c.8203C>T (p.Arg2735Ter)

Allele ID
358561
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q11.2
Genomic location
18: 23928148 (GRCh38) GRCh38 UCSC
18: 21508112 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.23928148C>T
NC_000018.9:g.21508112C>T
NG_007853.2:g.243551C>T
... more HGVS
Protein change
R1126*, R2735*, R1070*, R2679*
Other names
-
Canonical SPDI
NC_000018.10:23928147:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA8916873
dbSNP: rs774133746
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 Nov 3, 2016 RCV000411334.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LAMA3 - - GRCh38
GRCh37
773 811

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 03, 2016)
criteria provided, single submitter
Method: clinical testing
Junctional epidermolysis bullosa gravis of Herlitz
Allele origin: unknown
Counsyl
Accession: SCV000485275.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (1)

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
Enamel defects in carriers of a novel LAMA3 mutation underlying epidermolysis bullosa. Yuen WY Acta dermato-venereologica 2012 PMID: 22434185

Text-mined citations for rs774133746...

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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