ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.4519-2del

gnomAD frequency: 0.00002  dbSNP: rs778443262
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001379036 SCV001576758 likely pathogenic not provided 2023-12-20 criteria provided, single submitter clinical testing This sequence change affects a splice site in intron 43 of the COL7A1 gene. It is expected to disrupt splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COL7A1 are known to be disease-causing for autosomal recessive dystrophic epidermolysis bullosa (PMID: 16971478). However, certain variants affecting donor or acceptor splice sites in the triple helical domain of COL7A1 are expected to result in in-frame exon skipping and have been reported to cause autosomal dominant dystrophic epidermolysis bullosa (PMID: 31670143). This variant is present in population databases (rs778443262, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with COL7A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1067701). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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