ClinVar Miner

Submissions for variant NM_032436.4(CHAMP1):c.712G>A (p.Gly238Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003144841 SCV003831671 uncertain significance Intellectual disability, autosomal dominant 40 2021-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003164854 SCV003899152 uncertain significance Inborn genetic diseases 2023-02-14 criteria provided, single submitter clinical testing The c.712G>A (p.G238R) alteration is located in exon 3 (coding exon 1) of the CHAMP1 gene. This alteration results from a G to A substitution at nucleotide position 712, causing the glycine (G) at amino acid position 238 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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