ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.1843C>T (p.Arg615Cys)

gnomAD frequency: 0.00003  dbSNP: rs763131939
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002232079 SCV000648424 uncertain significance Parkinsonism-dystonia, infantile 2021-04-30 criteria provided, single submitter clinical testing In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this missense change leads to altered protein function and localization in cell culture experiments (PMID: 22514303, 25747272). This variant has been reported in individuals affected with attention-deficit hyperactivity disorder (ADHD). This variant is also described as 2026T/C in the literature. In the same study the authors incorrectly refer to this variant in the SLC6A4 gene, while later describing it correctly as being present in the SLC6A3 gene (PMID: 22514303). This variant is present in population databases at a very low frequency (rs763131939, ExAC <0.01%). This sequence change replaces arginine with cysteine at codon 615 of the SLC6A3 protein (p.Arg615Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine.

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