Total submissions: 2
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. |
Gene |
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) |