Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001339267 | SCV001532999 | uncertain significance | Transposition of the great arteries, dextro-looped | 2020-06-08 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with MED13L-related conditions. This variant is present in population databases (rs757111256, ExAC 0.002%). This sequence change replaces glutamic acid with lysine at codon 1491 of the MED13L protein (p.Glu1491Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. |