ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5188C>T (p.Arg1730Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001204717 SCV001375936 pathogenic not provided 2019-09-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1730*) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs746053763, ExAC 0.002%). This variant has been observed in an individual affected with epidermolysis bullosa dystrophica (PMID: 10504458). 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 RCV001352852 SCV001547318 pathogenic Dystrophic epidermolysis bullosa 2015-04-30 criteria provided, single submitter research

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