ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.695A>G (p.Gln232Arg)

dbSNP: rs2054805900
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001303503 SCV001492751 uncertain significance Rubinstein-Taybi syndrome 2020-08-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CREBBP protein function. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with arginine at codon 232 of the CREBBP protein (p.Gln232Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine.

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