Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000658207 | SCV000779978 | uncertain significance | not provided | 2018-05-11 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the GRIN2A gene. The D731H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to ourknowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The D731H 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. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Missensevariants in nearby residues have been reported in the Human Gene Mutation Database in individualswith GRIN2A-related disorders (Stenson et al., 2014). Therefore, based on the currently availableinformation, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |