Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001981833 | SCV002216802 | uncertain significance | Epilepsy, childhood absence 2; Febrile seizures, familial, 8 | 2020-11-15 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with clinical features of GABRG2-related conditions (PMID: 29655203, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with serine at codon 140 of the GABRG2 protein (p.Asn140Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. |
Juno Genomics, |
RCV004796686 | SCV005418116 | uncertain significance | Febrile seizures, familial, 8; Developmental and epileptic encephalopathy, 74 | criteria provided, single submitter | clinical testing | PM2_Supporting+PS4_Supporting+PM6_Supporting |