Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002234415 | SCV000754200 | uncertain significance | Ariboflavinosis | 2019-11-29 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been reported in an individual affected with multiple acyl-CoA dehydrogenase deficiency (MADD) (PMID: 23506902). This variant is present in population databases (rs139373407, ExAC 0.06%). This sequence change replaces alanine with threonine at codon 210 of the SLC52A1 protein (p.Ala210Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. |