Submissions for variant NM_012330.4(KAT6B):c.3253del (p.Glu1085fs)

dbSNP: rs1554843880

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000627587	SCV000748587	pathogenic	not provided	2018-04-17	criteria provided, single submitter	clinical testing	The c.3253delG variant in the KAT6B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3253delG variant causes a frameshift starting with codon Glutamic acid 1085, changes this amino acid to a Lysine residue, and creates a premature Stop codon at position 29 of the new reading frame, denoted p.Glu1085LysfsX29. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3253delG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.3253delG as a pathogenic variant.
3billion	RCV002283500	SCV002573149	pathogenic	Blepharophimosis - intellectual disability syndrome, SBBYS type	2022-09-01	criteria provided, single submitter	clinical testing	The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift variant is 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. The variant has been reported to be associated with KAT6B-related disorder (ClinVar ID: VCV000524091). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.