NM_000094.3(COL7A1):c.5097G>A (p.Pro1699=) AND Dystrophic epidermolysis bullosa

Clinical significance:Uncertain significance (Last evaluated: Oct 17, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000094.3(COL7A1):c.5097G>A (p.Pro1699=)]

NM_000094.3(COL7A1):c.5097G>A (p.Pro1699=)

COL7A1:collagen type VII alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000094.3(COL7A1):c.5097G>A (p.Pro1699=)
  • NC_000003.12:g.48580300C>T
  • NG_007065.1:g.19953G>A
  • NM_000094.3:c.5097G>A
  • NP_000085.1:p.Pro1699=
  • LRG_286t1:c.5097G>A
  • LRG_286:g.19953G>A
  • LRG_286p1:p.Pro1699=
  • NC_000003.11:g.48617733C>T
dbSNP: rs369034739
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000094.3:c.5097G>A - synonymous variant - [Sequence Ontology: SO:0001819]


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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000915058Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Oct 17, 2018)
germlineclinical testing

PubMed (2)
[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



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]

Single cell PCR amplification of microsatellites flanking the COL7A1 gene and suitability for preimplantation genetic diagnosis of Hallopeau-Siemens recessive dystrophic epidermolysis bullosa.

Fassihi H, Renwick PJ, Black C, McGrath JA.

J Dermatol Sci. 2006 Jun;42(3):241-8. Epub 2006 Feb 24.

PubMed [citation]

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000915058.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)


The COL7A1 c.5097G>A (p.Pro1699) is a synonymous variant that has been reported to lead to an in-frame deletion of the protein through aberrant splicing (Whittock et al. 1999). The p.Pro1699 variant has been reported in two studies in which it is found in a compound heterozygous state in a total of two individuals affected with dystrophic epidermolysis bullosa (Whittock et al. 1999; Fassihi et al. 2006). Parental genotypes were confirmed for one patient (Fassihi et al. 2006). Control data are unavailable for the p.Pro1699 variant, which is reported at a frequency of 0.00010 in the European (Non- Finnish) population of the Exome Aggregation Consortium. Based on the limited evidence, the p.Pro1699 variant is 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.

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

Last Updated: Apr 12, 2021

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