ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.7017C>T (p.Gly2339=)

dbSNP: rs1362309822
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Research in Genodermatoses and Epidermolysis Bullosa, University of Buenos Aires RCV002277067 SCV002499358 pathogenic Recessive dystrophic epidermolysis bullosa 2022-03-14 criteria provided, single submitter clinical testing
Mendelics RCV002246697 SCV002516281 likely pathogenic Transient bullous dermolysis of the newborn 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003560874 SCV004292716 pathogenic not provided 2024-10-09 criteria provided, single submitter clinical testing This sequence change affects codon 2339 of the COL7A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the COL7A1 protein. This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has been observed in individual(s) with autosomal recessive epidermolysis bullosa dystrophica (PMID: 19681861, 35979658). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1676631). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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