ClinVar Miner

Submissions for variant NM_001379210.1(SLC25A26):c.191-1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003405148 SCV004121974 likely pathogenic Combined oxidative phosphorylation deficiency 28 2023-10-20 criteria provided, single submitter clinical testing Variant summary: SLC25A26 c.191-1G>T is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Three computational tools predict a significant impact on normal splicing, suggesting the variant abolishes a canonical 3' splicing acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4.1e-06 in 242466 control chromosomes (gnomAD). To our knowledge, no occurrence of c.191-1G>T in individuals affected with Combined Oxidative Phosphorylation Deficiency 28 and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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