ClinVar Miner

Submissions for variant NM_032436.4(CHAMP1):c.824_828del (p.Thr274_Ser275insTer)

dbSNP: rs2139419505
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV002251164 SCV002521630 likely pathogenic Intellectual disability, autosomal dominant 40 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift: predicted to result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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