Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001305712 | SCV001495058 | uncertain significance | Polyhydramnios, megalencephaly, and symptomatic epilepsy | 2020-03-26 | 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with Rolandic epilepsy (PMID: 29358611). ClinVar contains an entry for this variant (Variation ID: 433135). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with isoleucine at codon 60 of the STRADA protein (p.Ser60Ile). The serine residue is moderately conserved and there is a large physicochemical difference between serine and isoleucine. |
Bioinformatics Core, |
RCV000656059 | SCV000588335 | pathogenic | Childhood epilepsy with centrotemporal spikes | 2017-01-01 | no assertion criteria provided | case-control | CAADphred>15 |