Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001053830 | SCV001218112 | uncertain significance | Methylmalonic acidemia with homocystinuria, type cblJ | 2019-12-31 | criteria provided, single submitter | clinical testing | This sequence change replaces proline with alanine at codon 14 of the ABCD4 protein (p.Pro14Ala). The proline residue is moderately conserved and there is a small physicochemical difference between proline and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ABCD4-related conditions. 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. |