Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001244041 | SCV001417234 | uncertain significance | Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 | 2019-11-14 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with WWOX-related conditions. This variant is present in population databases (rs781180473, ExAC 0.02%). This sequence change replaces aspartic acid with histidine at codon 10 of the WWOX protein (p.Asp10His). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and histidine. |
| Ambry Genetics | RCV003284115 | SCV003985775 | uncertain significance | Inborn genetic diseases | 2023-05-23 | criteria provided, single submitter | clinical testing | The c.28G>C (p.D10H) alteration is located in exon 1 (coding exon 1) of the WWOX gene. This alteration results from a G to C substitution at nucleotide position 28, causing the aspartic acid (D) at amino acid position 10 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |