ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.8505dup (p.Val2836fs)

dbSNP: rs2043560480
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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 RCV003555057 SCV004292697 pathogenic not provided 2022-12-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with autosomal recessive dystrophic epidermolysis bullosa (PMID: 12485454). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val2836Argfs*13) 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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