Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000219621 | SCV000279699 | uncertain significance | not provided | 2015-12-15 | criteria provided, single submitter | clinical testing | The T888A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The T888A 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. This substitution occurs at a position where amino acids with similar properties to Threonine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
| Labcorp Genetics |
RCV000802876 | SCV000942723 | likely benign | Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 | 2019-02-18 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002516200 | SCV003632631 | uncertain significance | Inborn genetic diseases | 2022-06-24 | criteria provided, single submitter | clinical testing | The c.2662A>G (p.T888A) alteration is located in exon 13 (coding exon 12) of the GRIN2B gene. This alteration results from a A to G substitution at nucleotide position 2662, causing the threonine (T) at amino acid position 888 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |