ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.2598G>T (p.Met866Ile)

gnomAD frequency: 0.00004  dbSNP: rs771016864
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756480 SCV001985268 uncertain significance not provided 2018-07-03 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001882821 SCV002289745 likely benign Rubinstein-Taybi syndrome 2024-01-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496068 SCV002780558 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2022-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539869 SCV003721540 likely benign Inborn genetic diseases 2022-03-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003931312 SCV004753969 likely benign CREBBP-related disorder 2023-10-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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