ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.594T>G (p.Ser198Arg)

gnomAD frequency: 0.00001  dbSNP: rs780048733
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001887655 SCV002109475 uncertain significance Parkinsonism-dystonia, infantile 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 198 of the SLC6A3 protein (p.Ser198Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is present in population databases (rs780048733, ExAC 0.03%). 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 disruptive. 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 RCV002545774 SCV003751791 uncertain significance Inborn genetic diseases 2021-12-03 criteria provided, single submitter clinical testing The c.594T>G (p.S198R) alteration is located in exon 4 (coding exon 3) of the SLC6A3 gene. This alteration results from a T to G substitution at nucleotide position 594, causing the serine (S) at amino acid position 198 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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