ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.1953_1954dup (p.Ile652fs)

dbSNP: rs2045600633
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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 RCV001043577 SCV001207330 pathogenic not provided 2023-06-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile652Thrfs*39) 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 variant has not been reported in the literature in individuals affected with COL7A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 841373). For these reasons, this variant has been classified as Pathogenic.

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