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NM_000094.4(COL7A1):c.6082G>A

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jul 4, 2021)
Last evaluated:
Oct 3, 2020
Accession:
VCV000379476.10
Variation ID:
379476
Description:
single nucleotide variant
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NM_000094.4(COL7A1):c.6082G>A

Allele ID
367608
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 48575437 (GRCh38) GRCh38 UCSC
3: 48612870 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_286:g.24816G>A
NC_000003.11:g.48612870C>T
NC_000003.12:g.48575437C>T
... more HGVS
Protein change
G2028R
Other names
-
Canonical SPDI
NC_000003.12:48575436:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16604607
dbSNP: rs762162799
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, multiple submitters, no conflicts Oct 3, 2020 RCV000435332.5
Pathogenic 1 criteria provided, single submitter Oct 31, 2018 RCV000763113.1
Pathogenic 1 criteria provided, single submitter Jan 28, 2019 RCV001352760.1
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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 31, 2018)
criteria provided, single submitter
Method: clinical testing
Transient bullous dermolysis of the newborn
Generalized dominant dystrophic epidermolysis bullosa
Pretibial epidermolysis bullosa
Dominant dystrophic epidermolysis bullosa with absence of skin
Recessive dystrophic epidermolysis bullosa
Epidermolysis bullosa pruriginosa
Nail disorder, nonsyndromic congenital, 8
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000893655.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Pathogenic
(Dec 31, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000516585.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The G2028R variant in the COL7A1 gene has been reported previously in both autosomal dominant and autosomal recessive dystrophic epidermolysis bullosa (DEB), including one individual … (more)
Pathogenic
(Jan 28, 2019)
criteria provided, single submitter
Method: research
Dystrophic epidermolysis bullosa
Allele origin: germline
Biomedical Innovation Departament, CIEMAT
Accession: SCV001547342.1
Submitted: (Mar 10, 2021)
Evidence details
Publications
PubMed (1)
Pathogenic
(Oct 03, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001578935.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (8)
Comment:
This sequence change replaces glycine with arginine at codon 2028 of the COL7A1 protein (p.Gly2028Arg). The glycine residue is highly conserved and there is a … (more)
Pathogenic
(May 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001246190.6
Submitted: (Jul 04, 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
Neonatal epidermolysis bullosa: lessons to learn about genetic counseling. Chong SC The Journal of dermatological treatment 2021 PMID: 30280950
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868
The COL7A1 mutation database. Wertheim-Tysarowska K Human mutation 2012 PMID: 22058051
Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations. van den Akker PC Journal of dermatological science 2009 PMID: 19665875
Collagen structure and stability. Shoulders MD Annual review of biochemistry 2009 PMID: 19344236
Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness. Weinel S Pediatric dermatology 2008 PMID: 18429782
A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa. Lee JY Archives of dermatological research 2000 PMID: 10836608
Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. Bella J Science (New York, N.Y.) 1994 PMID: 7695699
Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. Long CG Biochemistry 1993 PMID: 8218237

Text-mined citations for rs762162799...

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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