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NM_000094.3(COL7A1):c.4810G>C (p.Gly1604Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 1, 2019)
Last evaluated:
Aug 23, 2018
Accession:
VCV000631926.1
Variation ID:
631926
Description:
single nucleotide variant
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NM_000094.3(COL7A1):c.4810G>C (p.Gly1604Arg)

Allele ID
620133
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 48581456 (GRCh38) GRCh38 UCSC
3: 48618889 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.48618889C>G
NC_000003.12:g.48581456C>G
NM_000094.3:c.4810G>C NP_000085.1:p.Gly1604Arg missense
... more HGVS
Protein change
G1604R
Other names
-
Canonical SPDI
NC_000003.12:48581455:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1560234201
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 23, 2018 RCV000778706.1
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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
1620 1641

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 23, 2018)
criteria provided, single submitter
Method: clinical testing
Dystrophic epidermolysis bullosa
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000915059.1
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (3)
Comment:
The COL7A1 c.4810G>C (p.Gly1604Arg) missense variant has not been reported in the literature in association with dystrophic epidermolysis bullosa (DEB). However, another nucleotide change at … (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
Epidemiology and Outcome of Squamous Cell Carcinoma in Epidermolysis Bullosa in Australia and New Zealand. Kim M Acta dermato-venereologica 2018 PMID: 28853495
Altered expression of L-arginine metabolism pathway genes in chronic wounds in recessive dystrophic epidermolysis bullosa. Wessagowit V Clinical and experimental dermatology 2004 PMID: 15550148
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 rs1560234201...

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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