ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.4783-1G>A

gnomAD frequency: 0.00001  dbSNP: rs371908708
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001386007 SCV001586080 pathogenic not provided 2022-06-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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: 1073114). Disruption of this splice site has been observed in individuals with epidermolysis bullosa (PMID: 10504458, 26864810). This variant is present in population databases (rs371908708, gnomAD 0.003%). This sequence change affects an acceptor splice site in intron 49 of the COL7A1 gene. It is expected to disrupt RNA 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 pathogenic (PMID: 16971478).
Center for Research in Genodermatoses and Epidermolysis Bullosa, University of Buenos Aires RCV002276722 SCV002499336 pathogenic Recessive dystrophic epidermolysis bullosa 2022-03-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826167 SCV002079240 pathogenic Epidermolysis bullosa dystrophica 2021-09-22 no assertion criteria provided clinical testing

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