ClinVar Miner

Submissions for variant NM_003590.5(CUL3):c.563A>G (p.Gln188Arg)

gnomAD frequency: 0.00003  dbSNP: rs991634550
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002227684 SCV002506759 uncertain significance Neurodevelopmental disorder with or without autism or seizures 2021-06-04 criteria provided, single submitter clinical testing The inherited heterozygous missense variant c.563A>G, p.Gln188Arg has not been reported in individuals with CUL3-related disorders. The variant has an allele frequency of 0.002% (4 heterozygous) in the gnomAD v3.1.1 database, indicating a rare allele and in silico tools predict conflicting evidence of pathogenicity. Based on the available evidence, the variant c.563A>G, p.Gln188Arg in the CUL3 gene is classified as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002505889 SCV002815111 uncertain significance Pseudohypoaldosteronism type 2E; Neurodevelopmental disorder with or without autism or seizures 2024-06-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003089222 SCV003501631 likely benign not provided 2024-10-24 criteria provided, single submitter clinical testing

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