ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.895A>G (p.Ser299Gly)

gnomAD frequency: 0.00005  dbSNP: rs571552841
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001944024 SCV002212202 uncertain significance Parkinsonism-dystonia, infantile 2023-04-24 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1432669). This variant has not been reported in the literature in individuals affected with SLC6A3-related conditions. This variant is present in population databases (rs571552841, gnomAD 0.03%). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 299 of the SLC6A3 protein (p.Ser299Gly).

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