|| significance unclear; slight change related to ectodermal dysplasia
|| significance unclear; possibly a carrier for an ectodermal dysplasia allele
|| common in clinvar
aka c.233G>A, p.Arg78His and R78H
The rs61630004(A) allele is reported as pathogenic when homozygous (i.e. recessively inherited) for "pure" ectodermal dysplasia in two sets of Pakistani families.[PMID 16525032], [PMID 19865094]
However, the minor allele frequency appears to be around 1-3% in most populations, and as GET-Evidence states, this makes it unlikely that (A;A) homozygotes are routinely afflicted by ectodermal dysplasia, since it has an incidence of only around .02-.01% (1 or 2 in 10,000).
|| Low clinical importance, Uncertain benign
|| Presumed benign. Although this variant was implicated in causing ectodermal dysplasia in a recessive manner in two Pakistani families (one of which was large and consanguineous), GET-Evidence reports that the variant has been seen in 5 out of 114 random control chromosomes. This strongly contradicts a severe pathogenic effect.