ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.1087G>A (p.Val363Ile)

gnomAD frequency: 0.00002  dbSNP: rs750843353
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002235255 SCV000769005 uncertain significance Parkinsonism-dystonia, infantile 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 363 of the SLC6A3 protein (p.Val363Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs750843353, ExAC 0.002%). 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.

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