ClinVar Miner

Submissions for variant NM_003590.5(CUL3):c.1600A>G (p.Ile534Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005320321 SCV005990292 uncertain significance Inborn genetic diseases 2025-01-09 criteria provided, single submitter clinical testing The c.1600A>G (p.I534V) alteration is located in exon 11 (coding exon 11) of the CUL3 gene. This alteration results from a A to G substitution at nucleotide position 1600, causing the isoleucine (I) at amino acid position 534 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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