ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.707C>T (p.Pro236Leu)

gnomAD frequency: 0.00001  dbSNP: rs760467074
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001870136 SCV002119039 uncertain significance Parkinsonism-dystonia, infantile 2021-04-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SLC6A3-related conditions. This variant is present in population databases (rs760467074, ExAC 0.01%). This sequence change replaces proline with leucine at codon 236 of the SLC6A3 protein (p.Pro236Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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