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NM_000094.3(COL7A1):c.7411C>T (p.Arg2471Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 24, 2021)
Last evaluated:
May 25, 2020
Accession:
VCV000017459.4
Variation ID:
17459
Description:
single nucleotide variant
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NM_000094.3(COL7A1):c.7411C>T (p.Arg2471Ter)

Allele ID
32498
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 48570304 (GRCh38) GRCh38 UCSC
3: 48607737 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_286:g.29949C>T
NC_000003.11:g.48607737G>A
NC_000003.12:g.48570304G>A
... more HGVS
Protein change
R2471*
Other names
-
Canonical SPDI
NC_000003.12:48570303:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00001
Links
OMIM: 120120.0037
dbSNP: rs121912852
ClinGen: CA257962
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts May 25, 2020 RCV000255683.4
Pathogenic 1 no assertion criteria provided Apr 1, 1996 RCV000019010.29
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL7A1 - - GRCh38
GRCh37
1620 1641

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 25, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001589400.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change creates a premature translational stop signal (p.Arg2471*) in the COL7A1 gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Nov 15, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000321511.7
Submitted: (Sep 24, 2021)
Evidence details
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not … (more)
Pathogenic
(Apr 01, 1996)
no assertion criteria provided
Method: literature only
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE
Allele origin: germline
OMIM
Accession: SCV000039297.3
Submitted: (Dec 30, 2010)
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
An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease-causing variants. Mariath LM Clinical genetics 2019 PMID: 31001817
Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico. Saeidian AH Clinical and experimental dermatology 2018 PMID: 29473190
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. Varki R Journal of medical genetics 2007 PMID: 16971478
Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance. Christiano AM American journal of human genetics 1996 PMID: 8644729

Text-mined citations for rs121912852...

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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 08, 2021