ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.1641C>G (p.His547Gln)

gnomAD frequency: 0.00009  dbSNP: rs140639546
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002234311 SCV000937470 uncertain significance Parkinsonism-dystonia, infantile 2018-10-04 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SLC6A3-related disease. This variant is present in population databases (rs140639546, ExAC 0.02%). This sequence change replaces histidine with glutamine at codon 547 of the SLC6A3 protein (p.His547Gln). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and glutamine.

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