ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.292G>A (p.Gly98Ser)

dbSNP: rs767736927
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004981153 SCV005562772 uncertain significance Inborn genetic diseases 2024-07-31 criteria provided, single submitter clinical testing The c.292G>A (p.G98S) alteration is located in exon 2 (coding exon 2) of the CREBBP gene. This alteration results from a G to A substitution at nucleotide position 292, causing the glycine (G) at amino acid position 98 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005103039 SCV005728090 uncertain significance Rubinstein-Taybi syndrome 2024-04-20 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 98 of the CREBBP protein (p.Gly98Ser). This variant is present in population databases (rs767736927, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CREBBP-related conditions. 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) has been performed at Invitae 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.
PreventionGenetics, part of Exact Sciences RCV003954847 SCV004781356 uncertain significance CREBBP-related disorder 2024-02-21 no assertion criteria provided clinical testing The CREBBP c.292G>A variant is predicted to result in the amino acid substitution p.Gly98Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.