ClinVar Miner

Submissions for variant NM_001379210.1(SLC25A26):c.719G>T (p.Gly240Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV002280600 SCV002568864 uncertain significance Combined oxidative phosphorylation deficiency 28 2022-08-10 criteria provided, single submitter clinical testing The detected change is reported in the dbSNP database (dbSNP151 as of 08/10/2022) with the designation rs756504810. In gnomAD it is listed with a frequency of 0.001062% (3/282476) (as of 08/10/2022). Bioinformatically, the change is classified as "probably disease-causing" (PolyPhen2, Mutation Taster, SIFT, CADDphred 33). It is located in the protein domains "IPR018108" and "Mitochondrial carrier domain superfamily" of the corresponding protein and the nucleotide or amino acid in question is highly conserved. Based on the current state of knowledge, the variant can be classified as a “variant of uncertain clinical significance” (ACMG criteria). It was observed in trans with the variant NM_173471.4:c.554G>A, which was also classified as "variant of uncertain clinical significance".

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