ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.1010T>C (p.Met337Thr)

gnomAD frequency: 0.00008  dbSNP: rs147324129
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188802 SCV000242426 uncertain significance not provided 2024-08-07 criteria provided, single submitter clinical testing Identified in a patient with epilepsy in published literature (PMID: 29358611); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29358611)
Labcorp Genetics (formerly Invitae), Labcorp RCV000555823 SCV000636456 uncertain significance Progressive myoclonic epilepsy 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 337 of the SCARB2 protein (p.Met337Thr). This variant is present in population databases (rs147324129, gnomAD 0.01%). This missense change has been observed in individual(s) with Rolandic epilepsy (PMID: 29358611). ClinVar contains an entry for this variant (Variation ID: 206715). 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: "Benign"; 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.
Fulgent Genetics, Fulgent Genetics RCV000765787 SCV000897176 uncertain significance Action myoclonus-renal failure syndrome 2021-11-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321763 SCV002610040 uncertain significance Inborn genetic diseases 2018-09-25 criteria provided, single submitter clinical testing The p.M337T variant (also known as c.1010T>C), located in coding exon 8 of the SCARB2 gene, results from a T to C substitution at nucleotide position 1010. The methionine at codon 337 is replaced by threonine, an amino acid with similar properties. This variant was detected in a cohort of individuals with Rolandic epilepsy; however, complete genotype and phenotype information was not provided (Bobbili DR et al. Eur. J. Hum. Genet., 2018 Feb;26:258-264). This amino acid position is poorly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on available evidence to date, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000188802 SCV005190141 uncertain significance not provided criteria provided, single submitter not provided
Bioinformatics Core, Luxembourg Center for Systems Biomedicine RCV000655991 SCV000588267 pathogenic Childhood epilepsy with centrotemporal spikes 2017-01-01 no assertion criteria provided case-control CAADphred>15

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.