ClinVar Miner

Submissions for variant NM_003590.5(CUL3):c.1547A>C (p.Gln516Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004730433 SCV005340646 uncertain significance CUL3-related disorder 2024-08-17 no assertion criteria provided clinical testing The CUL3 c.1547A>C variant is predicted to result in the amino acid substitution p.Gln516Pro. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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