ClinVar Miner

Submissions for variant NM_003590.5(CUL3):c.1590T>G (p.His530Gln)

dbSNP: rs1574631853
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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 RCV002812552 SCV003597289 uncertain significance Inborn genetic diseases 2022-01-10 criteria provided, single submitter clinical testing The c.1590T>G (p.H530Q) alteration is located in exon 11 (coding exon 11) of the CUL3 gene. This alteration results from a T to G substitution at nucleotide position 1590, causing the histidine (H) at amino acid position 530 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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