Submissions for variant NM_004380.3(CREBBP):c.6384_6401del (p.Gln2128_Met2133del)

dbSNP: rs772003652

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000806094	SCV000946075	uncertain significance	Rubinstein-Taybi syndrome	2024-01-02	criteria provided, single submitter	clinical testing	This variant, c.6384_6401del, results in the deletion of 6 amino acid(s) of the CREBBP protein (p.Gln2128_Met2133del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs772003652, gnomAD 0.03%). 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: 650857). 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.
Revvity Omics, Revvity	RCV003144628	SCV003830007	uncertain significance	not provided	2022-08-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003938171	SCV004756590	likely benign	CREBBP-related condition	2022-10-17	criteria provided, single submitter	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).