ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.1305C>G (p.Ile435Met)

dbSNP: rs760545154
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001961309 SCV002249890 uncertain significance Parkinsonism-dystonia, infantile 2021-01-28 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 435 of the SLC6A3 protein (p.Ile435Met). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and methionine. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SLC6A3-related conditions. This variant is not present in population databases (ExAC no frequency).

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