Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150599 | SCV000197888 | pathogenic | Hypohidrotic X-linked ectodermal dysplasia | 2013-09-20 | criteria provided, single submitter | clinical testing | The Val270fs variant in EDA has not been reported in the literature nor previous ly identified by our laboratory. This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at position 270 and lead to a premat ure termination codon 10 amino acids downstream. This alteration is then predict ed to lead to a truncated or absent protein. Heterozygous loss of function of fu nction of the EDA gene is an established disease mechanism in XLHED. In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.pa rtners.org/LMM). |