ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.5830dup (p.Ala1944fs)

dbSNP: rs1567262786
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004596326 SCV005088840 likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2020-08-21 criteria provided, single submitter clinical testing This variant is predicted to cause a frameshift and consequent premature termination of the protein and the resultant protein will likely to lack TRERF1 interaction region [Uniprot] of the protein; this will likely result in loss-of-function. This variant has not been previously reported in population databases or in the literature. However, several other truncating variants such as; p.Pro1953fs and p.Glu1957fs lying downstream of the variant, have been previously reported as ‘pathogenic’ in the context of Rubinstein-Taybi syndrome.
Gharavi Laboratory, Columbia University RCV000681762 SCV000809221 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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