ClinVar Miner

Submissions for variant NM_001367534.1(CAMK2G):c.969dup (p.Ala324fs)

dbSNP: rs2134277165
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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 RCV002250979 SCV002521274 likely pathogenic Intellectual developmental disorder 59 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 nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. However, loss of function variants in. CAMK2G. gene are incompletely understood as sufficient data on the mechanism are lacking and only one misssense variant (p.Arg292Pro) has been reported as pathogenic. Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline.

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