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NM_000094.4(COL7A1):c.5440C>T (p.Arg1814Cys)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Aug 13, 2021)
Last evaluated:
Dec 30, 2020
Accession:
VCV001047935.3
Variation ID:
1047935
Description:
single nucleotide variant
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NM_000094.4(COL7A1):c.5440C>T (p.Arg1814Cys)

Allele ID
1035826
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 48578500 (GRCh38) GRCh38 UCSC
3: 48615933 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.48615933G>A
NC_000003.12:g.48578500G>A
NG_007065.1:g.21753C>T
... more HGVS
Protein change
R1814C
Other names
-
Canonical SPDI
NC_000003.12:48578499:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Jul 17, 2009 RCV001352698.1
Likely pathogenic 1 criteria provided, single submitter Dec 30, 2020 RCV001562826.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Jul 17, 2009)
criteria provided, single submitter
Method: research
Dystrophic epidermolysis bullosa
Allele origin: germline
Biomedical Innovation Departament, CIEMAT
Accession: SCV001547324.1
Submitted: (Mar 10, 2021)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Dec 30, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001785656.1
Submitted: (Aug 13, 2021)
Evidence details
Comment:
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 20920254, … (more)

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
Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants. Dang N Journal of dermatological science 2007 PMID: 17425959

Record last updated Sep 23, 2021