Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000181278 | SCV000233568 | uncertain significance | not provided | 2012-06-04 | criteria provided, single submitter | clinical testing | p.Arg281Gly (AGG>GGG): c.841 A>G in exon 7 of the DSP gene (NM_004415.2). The Arg281Gly variant in the DSP gene has not been previously reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Arg281Gly results in a non-conservative amino acid substitution of a positively charged Arginine to a non-polar Glycine at a position that is moderately conserved in other species. However, the NHLBI ESP Exome Variant Server reports Arg281Gly was observed in 1/3737 alleles from individuals of African American background. Therefore, the clinical significance of the Arg281Gly variant in the DSP gene is currently unknown. The variant is found in ARVC panel(s). |