ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4216G>T (p.Asp1406Tyr)

dbSNP: rs2052153254
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001218406 SCV001390288 likely pathogenic Rubinstein-Taybi syndrome 2022-11-29 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 1406 of the CREBBP protein (p.Asp1406Tyr). This variant is not present in population databases (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 expected to disrupt CREBBP protein function. ClinVar contains an entry for this variant (Variation ID: 947345). This missense change has been observed in individual(s) with Rubinstein-Taybi syndrome (PMID: 25388907). In at least one individual the variant was observed to be de novo.
Revvity Omics, Revvity RCV003142166 SCV003828620 uncertain significance not provided 2021-04-26 criteria provided, single submitter clinical testing

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