Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| New York Genome Center | RCV001839090 | SCV002098993 | uncertain significance | Intellectual developmental disorder, autosomal dominant 64 | 2021-05-14 | criteria provided, single submitter | clinical testing | The inherited heterozygous c.1190A>G (p.Glu397Gly) variant identified in the ZNF292 gene has not been reported in affected individualsin the literature. Although the variant is absent from gnomAD(v3) database there are 4 heterozygous alleles in the gnomAD(v2) database suggesting it is not a common benign variant in the populations represented in those databases. The variant affects an evolutionarily conserved residue and is predicted deleterious bymultiple in silico prediction tools (CADD score = 27.4, REVEL score = 0.503). Based on the available evidence, the inherited heterozygous c.1190A>G (p.Glu397Gly) variant identified in the ZNF292 gene is reported as a variant of uncertain significance. |
| Ambry Genetics | RCV002545218 | SCV003589628 | uncertain significance | Inborn genetic diseases | 2021-11-09 | criteria provided, single submitter | clinical testing | The c.1190A>G (p.E397G) alteration is located in exon 8 (coding exon 8) of the ZNF292 gene. This alteration results from a A to G substitution at nucleotide position 1190, causing the glutamic acid (E) at amino acid position 397 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |