ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.2587+40G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001377568 SCV001574936 likely pathogenic not provided 2020-10-22 criteria provided, single submitter clinical testing This sequence change falls in intron 19 of the COL7A1 gene. It does not directly change the encoded amino acid sequence of the COL7A1 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (gnomAD 0.001%). This variant has been observed in individual(s) with dystrophic epidermolysis bullosa (PMID: 26595603). It has also been observed to segregate with disease in related individuals. Studies have shown that this variant results in the use of an alternative splice site, which inserts 37 bp from intron 19 into the transcript and causes a frameshift (PMID: 26595603). The resulting mRNA is expected to undergo nonsense-mediated decay. 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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