ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3611A>T (p.Tyr1204Phe)

gnomAD frequency: 0.00014  dbSNP: rs200346970
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001567118 SCV001790753 likely benign not provided 2018-08-31 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327)
Invitae RCV002515831 SCV003211494 uncertain significance Rubinstein-Taybi syndrome 2023-12-30 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 1204 of the CREBBP protein (p.Tyr1204Phe). This variant is present in population databases (rs200346970, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CREBBP-related conditions. ClinVar contains an entry for this variant (Variation ID: 133928). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
ITMI RCV000120596 SCV000084754 not provided not specified 2013-09-19 no assertion provided reference population

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