ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.7344+1G>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001221448 SCV001393495 likely pathogenic not provided 2020-08-27 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 95 of the COL7A1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs754469339, ExAC 0.003%). This variant has not been reported in the literature in individuals with COL7A1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478). 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.
GeneDx RCV001221448 SCV001793172 pathogenic not provided 2019-06-05 no assertion criteria provided clinical testing Canonical splice site variant predicted to result in an in-frame deletion within the the structurally important triple helical region; Located in a region intolerant to change; the lost residues include a part of the triple helical region; Has not been previously published as pathogenic or benign to our knowledge

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