The BRCA1 c.5434C→G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements -- Gaildrat et al. 47 (6): 398 -- Journal of Medical Genetics

Blogger's Note: in plain english - many patients who have undergone genetic testing show test results of 'unknown variants' or variants of unknown clinical significance but negative for known mutations ie; BRCA 1/2; MSH2/6; MLH1; PMS2.
Some of these unclassified variants may or may not be related to cancer. With recent research, databases are now showing UV (unclassified variants) as true mutations.
This article is one of many which shows the work being done to explain and find the significance of these variants. Many patients undergoing genetic testing will test negative for the commonly known mutations, but this is not the'end of the story', so to speak.


Conclusion These data, together with segregation data, argue for the classification of BRCA1 c.5434C→G as a pathogenic splicing mutation. These results also suggest that UVs (unclassified variants)in highly conserved nucleotide sequences of short exons may be good candidates for detecting functionally relevant splicing regulatory elements.