Submissions for variant NM_012330.4(KAT6B):c.3788_3789del (p.Lys1263fs)

dbSNP: rs199470472

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV001267611	SCV001445793	pathogenic	Inborn genetic diseases	2018-04-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000128647	SCV001772179	pathogenic	not provided	2021-03-22	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in protein truncation, as the last 811 amino acids are replaced with 6 different amino acids; other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 23436491, 32424177, 22265014, 22715153)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000023488	SCV003441447	pathogenic	Genitopatellar syndrome	2024-09-02	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Lys1263Argfs*7) in the KAT6B gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 811 amino acid(s) of the KAT6B protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of genitopatellar syndrome (PMID: 22265014, 32424177; internal data). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 140472). For these reasons, this variant has been classified as Pathogenic.
Daryl Scott Lab, Baylor College of Medicine	RCV005222760	SCV005871274	pathogenic	KAT6B-related disorder	2024-01-01	criteria provided, single submitter	clinical testing	PVS1, PS2, PM2
OMIM	RCV000023488	SCV000044779	pathogenic	Genitopatellar syndrome	2012-02-10	no assertion criteria provided	literature only
Lee Lab(KAT6B), Baylor College of Medicine	RCV000128647	SCV000172287	not provided	not provided		no assertion provided	not provided