ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.82G>C (p.Glu28Gln)

gnomAD frequency: 0.00001  dbSNP: rs866199902
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002024735 SCV002308276 uncertain significance Parkinsonism-dystonia, infantile 2021-11-15 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. This variant has not been reported in the literature in individuals affected with SLC6A3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 28 of the SLC6A3 protein (p.Glu28Gln).

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