Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000520370 | SCV000617128 | likely pathogenic | not provided | 2017-03-17 | criteria provided, single submitter | clinical testing | The V27M variant in the QDPR gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The V27M variant is not observed in large population cohorts (Exome Variant Server). The V27M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |