ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val)

gnomAD frequency: 0.00003  dbSNP: rs745551441
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002231255 SCV000629375 benign Rubinstein-Taybi syndrome 2023-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316527 SCV000850772 uncertain significance Inborn genetic diseases 2016-09-27 criteria provided, single submitter clinical testing The p.A2024V variant (also known as c.6071C>T), located in coding exon 31 of the CREBBP gene, results from a C to T substitution at nucleotide position 6071. The alanine at codon 2024 is replaced by valine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6457 samples (12914 alleles) with coverage at this position. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002497075 SCV002786378 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2022-05-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003403260 SCV004119496 uncertain significance CREBBP-related condition 2022-11-10 criteria provided, single submitter clinical testing The CREBBP c.6071C>T variant is predicted to result in the amino acid substitution p.Ala2024Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.014% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-3778977-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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