ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.1693G>T (p.Ala565Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002909978 SCV003264669 uncertain significance Parkinsonism-dystonia, infantile 2021-12-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 565 of the SLC6A3 protein (p.Ala565Ser). This variant is present in population databases (rs751060245, gnomAD 0.01%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with SLC6A3-related conditions.

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