Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000523778 | SCV000618646 | uncertain significance | not provided | 2017-06-27 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the WWOX gene. The L340P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The L340P variant is observed in 3/16506 (0.02%) alleles from individuals of South Asian background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The L340P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, this substitution occurs at a position where amino acids with similar properties to Leucine are tolerated across species. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |