Submissions for variant NM_004380.3(CREBBP):c.6600GCAGCAGCAACA[3] (p.Gln2216_Gly2217insGlnGlnGlnGln)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV005103789	SCV005764746	uncertain significance	Rubinstein-Taybi syndrome	2024-10-31	criteria provided, single submitter	clinical testing	This variant, c.6612_6623dup, results in the insertion of 4 amino acid(s) of the CREBBP protein (p.Gln2213_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. 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	RCV004743845	SCV005353364	uncertain significance	CREBBP-related disorder	2024-06-08	no assertion criteria provided	clinical testing	The CREBBP c.6612_6623dup12 variant is predicted to result in an in-frame duplication (p.Gln2213_Gln2216dup). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.071% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.