ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.661G>A (p.Val221Met)

gnomAD frequency: 0.00002  dbSNP: rs138948519
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002234985 SCV000945229 uncertain significance Parkinsonism-dystonia, infantile 2018-10-04 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 variant has not been reported in the literature in individuals with SLC6A3-related disease. This variant is present in population databases (rs138948519, ExAC 0.02%). This sequence change replaces valine with methionine at codon 221 of the SLC6A3 protein (p.Val221Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine.

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