ClinVar Miner

Submissions for variant NM_003500.4(ACOX2):c.1983+2T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV005065361 SCV005690628 uncertain significance Congenital bile acid synthesis defect 6 2023-06-22 criteria provided, single submitter clinical testing The invariant splice donor c.1983+2T>C in ACOX2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1983+2T>C variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. SpliceAI predicts this variant to cause splice donor loss (score-0.96). However, this variant is present in the last intron, loss of function is not a known mechanism of this gene. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS). In the absence of another reportable variant in ACOX2 gene, the molecular diagnosis is not confirmed.

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