Submissions for variant NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)

dbSNP: rs267606752

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000010040	SCV000192864	pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	2013-02-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000255660	SCV000321525	pathogenic	not provided	2022-11-14	criteria provided, single submitter	clinical testing	Observed in multiple unrelated patients with features consistent with Rubinstein-Taybi syndrome in published literature (Kalkhoven et al., 2003; Schorry et al., 2008; Cross et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 20689175, 12566391, 17942008, 25158095, 15706485, 18792986, 32827181)
Wessex Regional Genetics Laboratory, Salisbury District Hospital	RCV000010040	SCV000999449	likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	2019-11-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Strasbourg University Hospital	RCV001260694	SCV001437786	pathogenic	Intellectual disability	2020-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001267080	SCV001445261	pathogenic	Inborn genetic diseases	2019-09-09	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000010040	SCV001523211	pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	2020-08-19	criteria provided, single submitter	clinical testing	This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Kariminejad - Najmabadi Pathology & Genetics Center	RCV001813970	SCV001755215	pathogenic	Abnormality of the nervous system	2021-07-10	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496320	SCV002809706	pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1	2022-03-17	criteria provided, single submitter	clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV000010040	SCV003807127	likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	2022-08-12	criteria provided, single submitter	clinical testing	ACMG classification criteria: PS4 moderated, PM1 moderated, PM2 moderated, PM6 moderated, PP3 supporting
OMIM	RCV000010040	SCV000030261	pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	2003-02-15	no assertion criteria provided	literature only
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000255660	SCV001951579	likely pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000255660	SCV001968683	pathogenic	not provided		no assertion criteria provided	clinical testing