Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001267361 | SCV001445542 | likely pathogenic | Inborn genetic diseases | 2020-07-06 | criteria provided, single submitter | clinical testing | The alteration results in a premature stop codon: The c.1839delC (p.F613Lfs*56) alteration, located in coding exon 16 of the DDX3X gene, results from a deletion of one nucleotide at position 1839, causing a translational frameshift with a predicted alternate stop codon after 56 amino acids. Frameshifts are typically deleterious in nature; however, this frameshift occurs at the 3' terminus of DDX3X, is not expected to trigger nonsense-mediated mRNA decay, and a truncated mutant protein could still be expressed (Maquat, 2004). This alteration impacts the last 50 amino acids of the protein and the exact functional impact of these altered amino acids is unknown at this time. The alteration is not observed in population databases: Based on data from the Genome Aggregation Database (gnomAD), the DDX3X c.1839delC alteration was not observed, with coverage at this position. Based on the available evidence, this alteration is classified as likely pathogenic. |