ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.8263del (p.Ala2755fs)

dbSNP: rs2107631937
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001387690 SCV001588362 pathogenic not provided 2020-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala2755Leufs*31) 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 (ExAC no frequency). This variant has not been reported in the literature in individuals with COL7A1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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