Total submissions: 4
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, |
RCV002497075 | SCV002786378 | uncertain significance | Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 | 2022-05-31 | criteria provided, single submitter | clinical testing | |
Prevention |
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. |