Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000657959 | SCV000779730 | likely pathogenic | not provided | 2018-06-01 | criteria provided, single submitter | clinical testing | The V145D variant in the KRT5 gene has been reported previously in an individual with generalized severe epidermolysis bullosa simplex (Sathishkumar et al., 2016). The V145D variant is not observed in large population cohorts (Lek et al., 2016). The V145D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This variant occurs within the head domain. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret V145D as a likely pathogenic variant. |