ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.6594GCA[6] (p.Gln2216_Gly2217insGln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002998992 SCV003292750 uncertain significance Rubinstein-Taybi syndrome 2022-11-28 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with CREBBP-related conditions. 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, c.6606_6608dup, results in the insertion of 1 amino acid(s) of the CREBBP protein (p.Gln2216dup), but otherwise preserves the integrity of the reading frame.
PreventionGenetics, part of Exact Sciences RCV003926636 SCV004741154 likely benign CREBBP-related disorder 2022-03-30 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).

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