Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001326166 | SCV001517180 | uncertain significance | not provided | 2020-10-19 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with leucine at codon 876 of the COL7A1 protein (p.Val876Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This variant has not been reported in the literature in individuals with COL7A1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |