ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.391T>C (p.Cys131Arg)

gnomAD frequency: 0.00013  dbSNP: rs147085187
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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.
CeGaT Center for Human Genetics Tuebingen 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-Nilou Lab 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.