Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000497310 | SCV000589743 | uncertain significance | not provided | 2017-06-12 | criteria provided, single submitter | clinical testing | The V2874M variant in the PKD1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V2874M variant is observed in 3/16342 (0.018%) alleles from individuals of South Asian background in the ExAC dataset (Lek et al., 2016). The V2874M variant is a conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V2874M as a variant of uncertain significance, |