ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.7104+5G>A

dbSNP: rs2043898537
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biomedical Innovation Departament, CIEMAT RCV001352826 SCV001547370 pathogenic Epidermolysis bullosa dystrophica 2009-07-03 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV003558818 SCV004292711 pathogenic not provided 2023-08-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1048022). This variant has been observed in individual(s) with autosomal recessive epidermolysis bullosa dystrophica (PMID: 16971478, 20184583). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 92 of the COL7A1 gene. It does not directly change the encoded amino acid sequence of the COL7A1 protein. It affects a nucleotide within the consensus splice site.

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