ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.1609G>A (p.Val537Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003082356 SCV003479037 uncertain significance Parkinsonism-dystonia, infantile 2022-07-28 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 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"). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 537 of the SLC6A3 protein (p.Val537Met). This variant is present in population databases (rs770121366, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with SLC6A3-related conditions.

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