ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.7126G>A (p.Val2376Ile)

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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 RCV005064757 SCV005719744 benign Rubinstein-Taybi syndrome 2024-09-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003899788 SCV004713513 uncertain significance CREBBP-related disorder 2023-12-14 no assertion criteria provided clinical testing The CREBBP c.7126G>A variant is predicted to result in the amino acid substitution p.Val2376Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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