ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter)

dbSNP: rs886041518
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000261393 SCV000330187 pathogenic not provided 2016-02-09 criteria provided, single submitter clinical testing The Q2081X pathogenic variant in the CREBBP gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation. The Q2081X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret Q2081X as a pathogenic variant.
3billion RCV002250613 SCV002521049 likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by more than 10%. The variant has been reported to be associated with CREBBP related disorder (ClinVar ID: VCV000280284). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001256995 SCV001433551 likely pathogenic Rare genetic intellectual disability no assertion criteria provided clinical testing

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