ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.2223_2226dup (p.Leu743fs)

dbSNP: rs1057517720
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413419 SCV000490483 pathogenic not provided 2015-04-07 criteria provided, single submitter clinical testing The c.2223_2226dupTGGA pathogenic variant in the COL7A1 gene has been reported previously, as c.2226insTGGA, in association with recessive DEB (Abu Sa'ad et al., 2006). The duplication causes a frameshift starting with codon Leucine 743, changes this amino acid to a Tryptophan residue and creates a premature Stop codon at position seven of the new reading frame, denoted p.Leu743TrpfsX7. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We interpret c.2223_2226dupTGGA to be a pathogenic variant.

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