ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4859A>G (p.Lys1620Arg)

dbSNP: rs2151318930
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005062896 SCV005712703 uncertain significance Rubinstein-Taybi syndrome 2024-11-29 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 1620 of the CREBBP protein (p.Lys1620Arg). This variant is not present in population databases (gnomAD no frequency). 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: 2633783). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CREBBP protein function. 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.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005062896 SCV005919057 uncertain significance Rubinstein-Taybi syndrome 2022-04-07 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV003400253 SCV004103206 uncertain significance CREBBP-related disorder 2024-03-29 no assertion criteria provided clinical testing The CREBBP c.4859A>G variant is predicted to result in the amino acid substitution p.Lys1620Arg. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. 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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