Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000197235 | SCV000252248 | uncertain significance | not provided | 2022-08-11 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001213095 | SCV001384712 | uncertain significance | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2022-08-09 | 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 215140). This variant has not been reported in the literature in individuals affected with SERAC1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.009%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 138 of the SERAC1 protein (p.Arg138Gln). |
Genome- |
RCV001213095 | SCV002555231 | uncertain significance | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2022-03-15 | criteria provided, single submitter | clinical testing |