ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.584G>T (p.Gly195Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002995895 SCV003295821 uncertain significance Parkinsonism-dystonia, infantile 2022-08-05 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 195 of the SLC6A3 protein (p.Gly195Val). This variant is present in population databases (rs780973070, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SLC6A3-related conditions. 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. 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.
Ambry Genetics RCV004068353 SCV004954573 uncertain significance Inborn genetic diseases 2023-10-05 criteria provided, single submitter clinical testing The c.584G>T (p.G195V) alteration is located in exon 4 (coding exon 3) of the SLC6A3 gene. This alteration results from a G to T substitution at nucleotide position 584, causing the glycine (G) at amino acid position 195 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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