Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002317445 | SCV000850814 | uncertain significance | Inborn genetic diseases | 2017-01-18 | criteria provided, single submitter | clinical testing | The p.P2152A variant (also known as c.6454C>G), located in coding exon 31 of the CREBBP gene, results from a C to G substitution at nucleotide position 6454. The proline at codon 2152 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is 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. |