ClinVar Miner

Submissions for variant NM_212552.3(BOLA3):c.259-1G>C

dbSNP: rs2528311007
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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 RCV003324292 SCV004029987 likely pathogenic Multiple mitochondrial dysfunctions syndrome 2 2023-07-11 criteria provided, single submitter clinical testing Variant summary: BOLA3 c.259-1G>C 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. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 3' acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251334 control chromosomes. To our knowledge, no occurrence of c.259-1G>C in individuals affected with Multiple Mitochondrial Dysfunctions Syndrome 2 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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