ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5047C>T (rs760063197)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414125 SCV000490490 pathogenic not provided 2016-11-17 criteria provided, single submitter clinical testing The R1683X pathogenic variant in the COL7A1 gene has been reported previously in association with autosomal recessive dystrophic epidermolysis bullosa (DEB) in patients who were compound heterozygous for the R1683X and another variant (Sawamura et al., 2005; Escámez et al., 2010; Almaani et al., 2011; van den Akker et al, 2011). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It was also not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R1683X as a pathogenic variant.
Invitae RCV000414125 SCV001222559 pathogenic not provided 2020-06-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1683*) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs760063197, ExAC 0.01%). This variant has been reported in combination with another COL7A1 variant in individuals affected with recessive dystrophic epidermolysis bullosa (PMID: 16189623, 21448560, 20184583). ClinVar contains an entry for this variant (Variation ID: 372337). Loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478). For these reasons, this variant has been classified as Pathogenic.
Biomedical Innovation Departament, CIEMAT RCV001352848 SCV001547314 pathogenic Dystrophic epidermolysis bullosa 2017-12-22 criteria provided, single submitter research
Natera, Inc. RCV001272357 SCV001454269 pathogenic Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-09-16 no assertion criteria provided clinical testing

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