ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3625C>T (p.Gln1209Ter)

dbSNP: rs1596852578
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002453935 SCV002616346 pathogenic Inborn genetic diseases 2017-02-28 criteria provided, single submitter clinical testing The p.Q1209* pathogenic mutation (also known as c.3625C>T), located in coding exon 19 of the CREBBP gene, results from a C to T substitution at nucleotide position 3625. This changes the amino acid from a glutamine to a stop codon within coding exon 19. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV000856907 SCV000999440 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2019-11-05 no assertion criteria provided clinical testing

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