ClinVar Miner

Submissions for variant NM_003590.5(CUL3):c.1864A>G (p.Ile622Val)

dbSNP: rs2106152416
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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 RCV002830296 SCV003599326 uncertain significance Inborn genetic diseases 2022-01-26 criteria provided, single submitter clinical testing The c.1864A>G (p.I622V) alteration is located in exon 14 (coding exon 14) of the CUL3 gene. This alteration results from a A to G substitution at nucleotide position 1864, causing the isoleucine (I) at amino acid position 622 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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