Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599203 | SCV000710718 | uncertain significance | not specified | 2018-02-19 | criteria provided, single submitter | clinical testing | The c.4195_4196delTGinsCA variant in the PKD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes codon Tryptophan 1399 to be replaced with a Glutamine, denoted p.Trp1399Gln. The c.4195_4196delTGinsCA variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The c.4195_4196delTGinsCA variant causes 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. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. We interpret c.4195_4196delTGinsCA as a variant of uncertain significance. |