ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6900+1G>A

dbSNP: rs1064793908
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486272 SCV000567327 pathogenic not provided 2015-08-16 criteria provided, single submitter clinical testing The 6900+1G>A variant in the COL7A1 gene has been reported previously in association with DEB(Varki et al. 2007, Chiaverini et al., 2014). This splice site substitution destroys the canonical splice donor site in intron 87. 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 proteintranslation. The 6900+1G>A variant was not observed in approximately 6,500 individuals of European andAfrican American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benignvariant in these populations. We interpret 6900+1G>A as a pathogenic variant.

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