Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003405145 | SCV004121971 | likely pathogenic | Warsaw breakage syndrome | 2023-10-20 | criteria provided, single submitter | clinical testing | Variant summary: DDX11 c.792+1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a canonical 5' splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4e-05 in 250638 control chromosomes (gnomAD). To our knowledge, no occurrence of c.792+1G>A in individuals affected with Warsaw Breakage Syndrome and no experimental evidence demonstrating its impact on protein function have been reported in peer-reviewed publications. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |