Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| New York Genome Center | RCV004799466 | SCV001441309 | uncertain significance | Neurodevelopmental disorder with or without early-onset generalized epilepsy | 2020-02-13 | criteria provided, single submitter | clinical testing | The heterozygous p.Lys2248Arg missense variant in the NBEA gene has not been reported in affected individuals in the available literature. The variant has 0.0000080 allele frequency the gnomAD database (2 out of 248,624 heterozygous alleles), indicating this is an extremely rare allele in the general population. In silico prediction tools show conflicting predictions about the potential pathogenicity of this variant. Based on the available evidence, the p.Lys2248Arg variant in the NBEA gene is classified as a variant of uncertain significance. |
| Ambry Genetics | RCV002537650 | SCV003584250 | uncertain significance | Inborn genetic diseases | 2021-06-18 | criteria provided, single submitter | clinical testing | The c.6743A>G (p.K2248R) alteration is located in exon 43 (coding exon 43) of the NBEA gene. This alteration results from a A to G substitution at nucleotide position 6743, causing the lysine (K) at amino acid position 2248 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |