ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.2854G>A (p.Val952Met)

gnomAD frequency: 0.00009  dbSNP: rs369930675
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001293919 SCV001482614 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations 2020-11-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002486106 SCV002778216 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2022-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002538429 SCV003492101 benign Rubinstein-Taybi syndrome 2023-04-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003393959 SCV004112476 uncertain significance CREBBP-related disorder 2023-01-25 criteria provided, single submitter clinical testing The CREBBP c.2854G>A variant is predicted to result in the amino acid substitution p.Val952Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.024% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-3820597-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004609724 SCV005109038 likely benign Inborn genetic diseases 2024-03-30 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.

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