ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.152G>A (p.Arg51Gln)

gnomAD frequency: 0.00001  dbSNP: rs774827862
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002235003 SCV000946055 uncertain significance Parkinsonism-dystonia, infantile 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 51 of the SLC6A3 protein (p.Arg51Gln). This variant is present in population databases (rs774827862, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SLC6A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 650844). 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.
Ambry Genetics RCV002537212 SCV003534322 uncertain significance Inborn genetic diseases 2022-12-13 criteria provided, single submitter clinical testing The c.152G>A (p.R51Q) alteration is located in exon 2 (coding exon 1) of the SLC6A3 gene. This alteration results from a G to A substitution at nucleotide position 152, causing the arginine (R) at amino acid position 51 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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