ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.4096G>T (p.Glu1366Ter)

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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 RCV003314363 SCV004013649 likely pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. The variant is predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by more than 10%. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with KAT6B related disorder (PMID: 27848944). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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