ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.417+3A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV005253393 SCV005904666 uncertain significance Peroxisome biogenesis disorder 9B 2023-12-02 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.001%). Predicted Consequence/Location: Intron variant In silico tools predict the variant to alter splicing and produce an abnormal transcript [SpliceAI: 0.48 (>=0.2, moderate evidence for spliceogenicity)]. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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