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NM_000094.4(COL7A1):c.5932C>T

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 10, 2021)
Last evaluated:
Oct 30, 2017
Accession:
VCV000449469.3
Variation ID:
449469
Description:
single nucleotide variant
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NM_000094.4(COL7A1):c.5932C>T

Allele ID
443475
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 48575673 (GRCh38) GRCh38 UCSC
3: 48613106 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.48613106G>A
NC_000003.12:g.48575673G>A
NM_000094.4:c.5932C>T MANE Select
... more HGVS
Protein change
R1978*
Other names
-
Canonical SPDI
NC_000003.12:48575672:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA352664932
dbSNP: rs1368134215
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Oct 30, 2017 RCV000523202.1
Pathogenic 1 criteria provided, single submitter May 11, 2017 RCV001352708.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL7A1 - - GRCh38
GRCh37
1621 1642

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 30, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000617659.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The R1978X pathogenic variant in the COL7A1 gene has been reported previously in multiple individuals with dystrophic epidermolysis bullosa (Gardella et al., 2000; Sawamura et … (more)
Pathogenic
(May 11, 2017)
criteria provided, single submitter
Method: research
Dystrophic epidermolysis bullosa
Allele origin: germline
Biomedical Innovation Departament, CIEMAT
Accession: SCV001547335.1
Submitted: (Mar 10, 2021)
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
Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis. Whittock NV The Journal of investigative dermatology 1999 PMID: 10504458

Text-mined citations for rs1368134215...

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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 Apr 08, 2021