ClinVar Miner

Submissions for variant NM_017646.6(TRIT1):c.415-4A>G

dbSNP: rs1642667473
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002251045 SCV002521407 uncertain significance Combined oxidative phosphorylation deficiency 35 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tools predict the variant to alter splicing and produce an abnormal transcript (SpliceAI: 0.95). Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline.

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