ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6859G>A (rs121912839)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439658 SCV000517364 pathogenic not provided 2015-05-28 criteria provided, single submitter clinical testing The G2287R variant in the COL7A1 gene was first identified, in the compound heterozygous state, in apatient with moderately severe dystrophic epidermolysis bullosa (Shimizu et al., 1999). Further clinicalinvestigation revealed that the patient's mother and all maternal relatives who were carriers of the G2287Rvariant had mild nail dystrophy, restricted to both big toes, without skin fragility (Shimizu et al., 1999). TheG2287R substitution was also identified in a patient with dystrophic epidermolysis bullosa pruriginosa, whohad toenail dystrophy since his early teens, but no cutaneous manifestations until the age of 71 (Hayashi etal., 2011). The G2287R variant was not observed in approximately 6500 individuals of European andAfrican American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benignvariant in these populations. The G2287R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or otherproperties. This substitution occurs at a position that is conserved across species and located within a triplehelical region of the protein, which affects the Glycine residue of the Gly-X-Y repeats observed in thisregion. In silico analysis predicts this variant is probably damaging to the protein structure/function. Weinterpret G2287R as a pathogenic variant.
Biomedical Innovation Departament, CIEMAT RCV001352821 SCV001547364 pathogenic Dystrophic epidermolysis bullosa 2017-12-22 criteria provided, single submitter research
OMIM RCV000018998 SCV000039285 pathogenic Recessive dystrophic epidermolysis bullosa 1999-09-01 no assertion criteria provided literature only
OMIM RCV000022473 SCV000043762 pathogenic Nail disorder, nonsyndromic congenital, 8 1999-09-01 no assertion criteria provided literature only
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000408804 SCV000484927 pathogenic Generalized dominant dystrophic epidermolysis bullosa no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000439658 SCV001742389 pathogenic not provided no assertion criteria provided clinical testing

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