ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.7154del (p.Pro2385fs)

dbSNP: rs909040709
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001564799 SCV001788017 pathogenic not provided 2019-03-19 criteria provided, single submitter clinical testing Frameshift 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: 22266148)
Labcorp Genetics (formerly Invitae), Labcorp RCV001564799 SCV002209590 pathogenic not provided 2022-11-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro2385Glnfs*3) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with dystrophic epidermolysis bullosa (PMID: 22266148). ClinVar contains an entry for this variant (Variation ID: 1199942). For these reasons, this variant has been classified as Pathogenic.

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