ClinVar Miner

Submissions for variant NM_017986.4(SLC52A1):c.1240G>A (p.Ala414Thr)

gnomAD frequency: 0.00007  dbSNP: rs142353672
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002233709 SCV000836380 uncertain significance Ariboflavinosis 2022-08-16 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 583054). This missense change has been observed in individual(s) with sporadic early onset Parkinson disease (PMID: 23506902). This variant is present in population databases (rs142353672, gnomAD 0.01%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 414 of the SLC52A1 protein (p.Ala414Thr).

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