ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.8440C>T (p.Arg2814Ter) (rs143457874)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255944 SCV000321517 pathogenic not provided 2018-08-07 criteria provided, single submitter clinical testing The R2814X pathogenic variant in the COL7A1 gene has been reported previously in association with dystrophic epidermolysis bullosa (Christiano et al., 1996a; Varki et al., 2007; Dang et al., 2007). The R2814X variant has also been observed in the apparent homozygous state or with a pathogenic variant on the opposite allele (in trans) in patients with epidermolysis bullosa referred for genetic testing at GeneDx. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R2814X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret R2814X as a pathogenic variant.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000255944 SCV000343270 pathogenic not provided 2016-06-22 criteria provided, single submitter clinical testing
Invitae RCV000255944 SCV001203926 pathogenic not provided 2020-05-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2814*) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs143457874, ExAC 0.003%). This variant has been observed in several individuals affected with recessive dystrophic epidermolysis bullosa (PMID: 8900535, 28830826, 26143532). ClinVar contains an entry for this variant (Variation ID: 265082). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001275761 SCV001461233 pathogenic Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000255944 SCV001743861 pathogenic not provided no assertion criteria provided clinical testing

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