ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.8053C>T (p.Arg2685Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001199217 SCV001370244 pathogenic Epidermolysis bullosa pruriginosa 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic.
Invitae RCV001204526 SCV001375735 pathogenic not provided 2020-09-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2685*) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with autosomal recessive dystrophic epidermolysis bullosa (PMID: 10408773, 19665875). ClinVar contains an entry for this variant (Variation ID: 932076). Loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001204526 SCV001764239 pathogenic not provided 2019-09-24 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 19665875, 10408773, 12485454, 25525159)

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