ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.70G>A (p.Val24Met)

gnomAD frequency: 0.00034  dbSNP: rs201800694
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647220 SCV000769009 uncertain significance Parkinsonism-dystonia, infantile 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 24 of the SLC6A3 protein (p.Val24Met). This variant is present in population databases (rs201800694, gnomAD 0.06%). This missense change has been observed in individual(s) with Parkinson disease (PMID: 28263315). ClinVar contains an entry for this variant (Variation ID: 538067). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV000765818 SCV000897211 uncertain significance Tobacco addiction, susceptibility to; Classic dopamine transporter deficiency syndrome 2018-10-31 criteria provided, single submitter clinical testing

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