ClinVar Miner

Submissions for variant NM_017986.4(SLC52A1):c.628G>A (p.Ala210Thr)

gnomAD frequency: 0.00014  dbSNP: rs139373407
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Total submissions: 1
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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.

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