ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6696dup (p.Gly2233fs)

dbSNP: rs749256529
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001210402 SCV001381887 pathogenic not provided 2020-04-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478). This variant has been observed in individuals affected with epidermolysis bullosa (PMID: 10944088, 16971478). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Gly2233Argfs*57) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001210402 SCV004024916 pathogenic not provided 2025-03-04 criteria provided, single submitter clinical testing
GeneDx RCV001210402 SCV004168000 pathogenic not provided 2023-11-15 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 21448560, 10944088, 16971478)

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