ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4812del (p.Asn1604fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV004768481 SCV005375480 likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations criteria provided, single submitter clinical testing This single nucleotide deletion likely causes shift in the reading frame of the transcript and introduces a premature termination codon, which may either result in a truncated protein or trigger nonsense-mediated mRNA decay. The above-mentioned findings confirm the diagnosis of Rubinstein-Taybi syndrome 1 in the proband.

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