ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.293C>T (p.Ser98Leu)

dbSNP: rs1579381851
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801045 SCV000940801 uncertain significance Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2022-03-11 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 646704). This variant has not been reported in the literature in individuals affected with SDHA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 98 of the SDHA protein (p.Ser98Leu). 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 disruptive. 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.
Baylor Genetics RCV001329183 SCV001520547 uncertain significance Mitochondrial complex II deficiency, nuclear type 1 2019-02-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV003166199 SCV003904042 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-20 criteria provided, single submitter clinical testing The p.S98L variant (also known as c.293C>T), located in coding exon 3 of the SDHA gene, results from a C to T substitution at nucleotide position 293. The serine at codon 98 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, 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.