ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.682+1G>A

gnomAD frequency: 0.00003  dbSNP: rs775288140
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413063 SCV000490480 pathogenic not provided 2022-01-27 criteria provided, single submitter clinical testing Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 22266148, 21448560, 19643583, 29753700, 11000732, 16971478, 29625052, 16439963, 16484981, 12485454, 19681861, 20598510, 9326325, 18951764, 34046686, 33274474)
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000503323 SCV000588375 likely pathogenic Recessive dystrophic epidermolysis bullosa 2017-06-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000413063 SCV000938241 pathogenic not provided 2024-05-29 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 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). This variant is present in population databases (no rsID available, gnomAD 0.004%). Disruption of this splice site has been observed in individuals with epidermolysis bullosa (PMID: 9326325, 11000732, 18951764, 19643583, 22266148). ClinVar contains an entry for this variant (Variation ID: 372329). 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.
Center for Research in Genodermatoses and Epidermolysis Bullosa, University of Buenos Aires RCV000503323 SCV002499361 pathogenic Recessive dystrophic epidermolysis bullosa 2022-03-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273346 SCV001456306 pathogenic Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-09-16 no assertion criteria provided clinical testing

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