ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.8541del (p.Glu2848fs)

dbSNP: rs2043547588
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001261559 SCV001438824 likely pathogenic Recessive dystrophic epidermolysis bullosa criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003679049 SCV004427662 pathogenic not provided 2022-12-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 982059). This variant has not been reported in the literature in individuals affected with COL7A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu2848Argfs*50) 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).

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