ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.8053C>T (p.Arg2685Ter)

gnomAD frequency: 0.00001  dbSNP: rs2043645754
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199217 SCV001370244 pathogenic Epidermolysis bullosa pruriginosa 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic.
Invitae RCV001204526 SCV001375735 pathogenic not provided 2023-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2685*) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with autosomal recessive dystrophic epidermolysis bullosa (PMID: 10408773, 19665875). ClinVar contains an entry for this variant (Variation ID: 932076). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001204526 SCV001764239 pathogenic not provided 2019-09-24 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 19665875, 10408773, 12485454, 25525159)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331075 SCV004038734 pathogenic COL7A1-related disorders 2023-08-21 criteria provided, single submitter clinical testing Variant summary: COL7A1 c.8053C>T (p.Arg2685X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251130 control chromosomes (gnomAD). c.8053C>T has been reported in the literature in individuals affected with Dystrophic Epidermolysis Bullosa, Recessive (e.g., Chen_2022). The following publication was ascertained in the context of this evaluation (PMID: 36287101). Three submitters have reported clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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