ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.2587+1G>A

dbSNP: rs1294265690
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001378883 SCV001576571 pathogenic not provided 2023-11-04 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 19 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 not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with recessive dystrophic epidermolysis bullosa (PMID: 19681861, 34046686). ClinVar contains an entry for this variant (Variation ID: 1032184). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001378883 SCV002504210 pathogenic not provided 2020-10-09 criteria provided, single submitter clinical testing Reported with a pathogenic variant in a patient with dystrophic epidermolysis bullosa, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (Kern et al., 2009); Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25525159, 19681861, 34046686)

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