ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.1111A>C (p.Met371Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003593820 SCV004323045 uncertain significance Parkinsonism-dystonia, infantile 2024-01-17 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 371 of the SLC6A3 protein (p.Met371Leu). This variant is present in population databases (rs771052229, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SLC6A3-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SLC6A3 protein function with a negative predictive value of 80%. 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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