ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.1269C>T (p.Ala423=)

gnomAD frequency: 0.00005  dbSNP: rs200757674
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001070261 SCV001235481 uncertain significance Parkinsonism-dystonia, infantile 2024-01-15 criteria provided, single submitter clinical testing This sequence change affects codon 423 of the SLC6A3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SLC6A3 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs200757674, gnomAD 0.01%). 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: 863321). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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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