ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.1312C>T (p.Arg438Ter)

dbSNP: rs2150886359
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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 RCV001784082 SCV002025270 pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2021-11-21 criteria provided, single submitter clinical testing Stop-gained (nonsense): 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. It is not observed in the gnomAD v2.1.1 dataset. The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novo (3billion dataset). Therefore, this variant was classfied as pathogenic according to the ACMG guideline.

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