ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.4790T>C (p.Leu1597Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV005253230 SCV005903876 uncertain significance Proteinuria, chronic benign 2023-07-18 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Protein truncation variants are a common disease-causing mechanism. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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