Rs28931610

rs28931610, also known as R2366C or Arg2366C, is a SNP in the desmoplakin DSP gene on chromosome 6.

The disabling keratoderma known as skin fragility-woolly hair syndrome (SFWHS) can be caused by either inheriting two copies of the [[rs28931610](T) allele or one copy plus another DSP gene mutation on the other chromosomal strand.

This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.