ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6022C>T (rs1055680335)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625955 SCV000746553 pathogenic Dystrophic epidermolysis bullosa 2017-12-03 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000789046 SCV000928395 pathogenic Recessive dystrophic epidermolysis bullosa 2018-11-09 criteria provided, single submitter clinical testing PM1, PM2, PM5, PP2, PP3, PP5
Invitae RCV001216539 SCV001388342 pathogenic not provided 2020-06-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 2008 of the COL7A1 protein (p.Arg2008Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous or in combination with another COL7A1 in individuals with dystrophic epidermolysis bullosa (PMID: 9740253, 10084325, 15888141, 16271705, 20184583). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 522791). This variant disrupts the p.Arg2008 amino acid residue in COL7A1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9326325, 10504458, 10084325). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Biomedical Innovation Departament, CIEMAT RCV000625955 SCV001547337 pathogenic Dystrophic epidermolysis bullosa 2011-03-08 criteria provided, single submitter research

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