Submissions for variant NM_004380.3(CREBBP):c.6612GCA[4] (p.Gln2216dup)

dbSNP: rs779647460

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000193510	SCV000229449	likely benign	not specified	2015-01-05	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000193510	SCV000247118	likely benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314797	SCV000847965	likely benign	Inborn genetic diseases	2018-12-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics	RCV002500589	SCV002806250	likely benign	Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1	2021-09-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002517926	SCV003001288	uncertain significance	Rubinstein-Taybi syndrome	2023-12-18	criteria provided, single submitter	clinical testing	This variant, c.6618_6620dup, results in the insertion of 1 amino acid(s) of the CREBBP protein (p.Gln2216dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CREBBP-related conditions. ClinVar contains an entry for this variant (Variation ID: 210787). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences	RCV003937687	SCV004748199	likely benign	CREBBP-related disorder	2019-07-08	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).