ClinVar Miner

Submissions for variant NM_003850.3(SUCLA2):c.434C>T (p.Thr145Met)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002574157 SCV002935741 uncertain significance Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 145 of the SUCLA2 protein (p.Thr145Met). This variant is present in population databases (rs747966366, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with SUCLA2-related conditions. 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.
Ambry Genetics RCV004064372 SCV004959942 uncertain significance Inborn genetic diseases 2023-12-21 criteria provided, single submitter clinical testing The c.434C>T (p.T145M) alteration is located in exon 4 (coding exon 4) of the SUCLA2 gene. This alteration results from a C to T substitution at nucleotide position 434, causing the threonine (T) at amino acid position 145 to be replaced by a methionine (M). 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.