Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000183538 | SCV000236006 | uncertain significance | not provided | 2013-03-04 | criteria provided, single submitter | clinical testing | p.Gly525Arg (GGT>CGT): c.1573 G>C in exon 9 of the LDB3 gene (NM_007078.2). The Gly525Arg variant in the LDB3 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Gly525Arg results in a non-conservative amino acid substitution of a non-polar Glycine with a positively charged Arginine at a position that is not well conserved across species. No mutations in nearby codons have been reported in association with cardiomyopathy, indicating this region of the protein may be tolerant of change. Nevertheless, the Gly525Arg variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. With the clinical and molecular information available at this time, we cannot definitively determine if Gly525Arg is a disease-causing mutation or a rare benign variant. The variant is found in DCM panel(s). |