ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.1766A>T (p.Glu589Val)

gnomAD frequency: 0.00009  dbSNP: rs757597222
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001227736 SCV001400106 uncertain significance Parkinsonism-dystonia, infantile 2022-04-21 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 589 of the SLC6A3 protein (p.Glu589Val). This variant is present in population databases (rs757597222, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with SLC6A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 955146). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
GeneDx RCV001773517 SCV001993189 uncertain significance not provided 2019-08-12 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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