Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000200075 | SCV000252258 | uncertain significance | not provided | 2016-09-01 | criteria provided, single submitter | clinical testing | The C131R variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The C131R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. |
Ce |
RCV000200075 | SCV001154978 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | SERAC1: BP4 |
Invitae | RCV001314802 | SCV001505350 | uncertain significance | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2022-07-19 | criteria provided, single submitter | clinical testing | This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 131 of the SERAC1 protein (p.Cys131Arg). This variant is present in population databases (rs147085187, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SERAC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 215150). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
Genome- |
RCV001314802 | SCV002555242 | uncertain significance | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002517260 | SCV003702393 | uncertain significance | Inborn genetic diseases | 2022-11-08 | criteria provided, single submitter | clinical testing | The c.391T>C (p.C131R) alteration is located in exon 6 (coding exon 5) of the SERAC1 gene. This alteration results from a T to C substitution at nucleotide position 391, causing the cysteine (C) at amino acid position 131 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |