ClinVar Miner

Submissions for variant NM_003366.4(UQCRC2):c.1254dup (p.Val419fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003152949 SCV003841526 uncertain significance Mitochondrial complex III deficiency nuclear type 5 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by less than 10%. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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