ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.1067C>T (p.Thr356Met)

gnomAD frequency: 0.00003  dbSNP: rs577802449
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000784921 SCV000923462 uncertain significance Classic dopamine transporter deficiency syndrome 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001221916 SCV001393987 uncertain significance Parkinsonism-dystonia, infantile 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 356 of the SLC6A3 protein (p.Thr356Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs577802449, ExAC 0.01%). This missense change has been observed in individual(s) with autism spectrum disorder (PMID: 22495311, 23979605). ClinVar contains an entry for this variant (Variation ID: 634445). 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. Experimental studies have shown that this missense change affects SLC6A3 function (PMID: 23979605, 25741436, 29559554). 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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