ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.4011+1G>A

dbSNP: rs1553862581
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519849 SCV000617974 pathogenic not provided 2016-01-07 criteria provided, single submitter clinical testing The c.4011+1 G>A pathogenic variant in the COL7A1 gene has not been reported previously in association with DEB to our knowledge, however numerous other splicing mutations have been reported in the canonical splice sequence.. This splice site variant destroys the canonical splice donor site in intron 33. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.4011+1 G>A variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.4011+1 G>A as a pathogenic variant.
Center for Research in Genodermatoses and Epidermolysis Bullosa, University of Buenos Aires RCV002279312 SCV002499331 pathogenic Recessive dystrophic epidermolysis bullosa 2022-03-14 criteria provided, single submitter clinical testing

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