ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6311_6312del (p.Ser2104fs)

dbSNP: rs2530955325
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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 RCV002651682 SCV003525158 pathogenic not provided 2022-08-05 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with autosomal recessive dystrophic epidermolysis bullosa (PMID: 16971478, 26076072). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser2104Trpfs*12) 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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