Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001823026 | SCV002072538 | pathogenic | Developmental and epileptic encephalopathy, 28 | 2022-01-12 | criteria provided, single submitter | clinical testing | This variant was identified as compound heterozygous with NM_016373.4:c.(516+1_517-1)_(605+1_606-1)del._x000D_ Criteria applied: PM3_VSTR, PM2_SUP, PP3 |
Labcorp Genetics |
RCV001869806 | SCV002126887 | uncertain significance | Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 | 2023-07-21 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 17 of the WWOX protein (p.Glu17Lys). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1338792). This missense change has been observed in individuals with developmental and epileptic encephalopathy (PMID: 30356099, 31618474). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. |