ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6781C>T (rs772381373)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413778 SCV000490504 pathogenic not provided 2016-09-27 criteria provided, single submitter clinical testing The R2261X pathogenic variant in the COL7A1 gene has been reported previously (Sato-Matsumura et al. 2003, Kern et al., 2006, 2009). The R2261X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Numerous other premature termination codon forming variants in the COL7A1 gene have been reported in the literature and are commonly associated with a more severe DEB phenotype. We interpret R2261X as a pathogenic variant.
Biomedical Innovation Departament, CIEMAT RCV001352820 SCV001547363 pathogenic Dystrophic epidermolysis bullosa 2017-05-24 criteria provided, single submitter research

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