NM_000094.3(COL7A1):c.4810G>C (p.Gly1604Arg) AND Dystrophic epidermolysis bullosa

Clinical significance:Uncertain significance (Last evaluated: Aug 23, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000778706.1

Allele description [Variation Report for NM_000094.3(COL7A1):c.4810G>C (p.Gly1604Arg)]

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

Gene:
COL7A1:collagen type VII alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_000094.3(COL7A1):c.4810G>C (p.Gly1604Arg)
HGVS:
  • NC_000003.12:g.48581456C>G
  • NG_007065.1:g.18797G>C
  • NM_000094.3:c.4810G>C
  • NP_000085.1:p.Gly1604Arg
  • LRG_286t1:c.4810G>C
  • LRG_286:g.18797G>C
  • LRG_286p1:p.Gly1604Arg
  • NC_000003.11:g.48618889C>G
Protein change:
G1604R
Links:
dbSNP: rs1560234201
NCBI 1000 Genomes Browser:
rs1560234201
Molecular consequence:
  • NM_000094.3:c.4810G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dystrophic epidermolysis bullosa
Synonyms:
Epidermolysis Bullosa Dystrophica; Severe generalized recessive dystrophic epidermolysis bullosa; RDEB-sev gen; See all synonyms [MedGen]
Identifiers:
MedGen: C0079294

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000915059Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Aug 23, 2018)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Altered expression of L-arginine metabolism pathway genes in chronic wounds in recessive dystrophic epidermolysis bullosa.

Wessagowit V, Mallipeddi R, McGrath JA, South AP.

Clin Exp Dermatol. 2004 Nov;29(6):664-8.

PubMed [citation]
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, Ashton GH, Mohammedi R, Mellerio JE, Mathew CG, Abbs SJ, Eady RA, McGrath JA.

J Invest Dermatol. 1999 Oct;113(4):673-86.

PubMed [citation]
PMID:
10504458
See all PubMed Citations (3)

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000915059.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

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 the same position, c.4810G>A, which results in the same amino acid substitution, p.Gly1604Arg, has been reported in a compound heterozygous state with a frameshift variant in at least two individuals with DEB (Whittock et al. 1999; Wessagowit et al. 2004; Kim et al. 2018). Control data are unavailable for the p.Gly1604Arg variant. The variant also is not found in the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium, or the Genome Aggregation Consortium despite good coverage of the genomic region, suggesting it is rare. The evidence for this variant is limited. The p.Gly1604Arg variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for dystrophic epidermolysis bullosa. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 12, 2021

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