Submissions for variant NM_012330.4(KAT6B):c.3147G>A (p.Pro1049=)

dbSNP: rs886041207

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000324613	SCV000329369	pathogenic	not provided	2022-04-08	criteria provided, single submitter	clinical testing	Published functional studies demonstrate aberrant splicing that results in a frameshift followed by a premature termination codon and is subject to partial nonsense-mediated mRNA decay (Yilmaz et al., 2015); Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26334766, 25424711, 28426343, 33726816, 35118825)
Institute of Human Genetics, University of Leipzig Medical Center	RCV001028070	SCV001429157	pathogenic	Blepharophimosis - intellectual disability syndrome, SBBYS type	2016-05-12	criteria provided, single submitter	clinical testing	This variant was identified as de novo (maternity and paternity confirmed).
Diagnostic Laboratory, Strasbourg University Hospital	RCV001257725	SCV001434536	pathogenic	Intellectual disability	2020-04-20	criteria provided, single submitter	clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV001028070	SCV003807301	pathogenic	Blepharophimosis - intellectual disability syndrome, SBBYS type	2023-01-20	criteria provided, single submitter	clinical testing	ACMG classification criteria: PS4 strong, PM2 moderated, PM6 very strong
Kariminejad - Najmabadi Pathology & Genetics Center	RCV001028070	SCV004101674	pathogenic	Blepharophimosis - intellectual disability syndrome, SBBYS type	2023-11-11	criteria provided, single submitter	clinical testing
GeneReviews	RCV001028070	SCV001190851	not provided	Blepharophimosis - intellectual disability syndrome, SBBYS type		no assertion provided	literature only