ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.991G>C (p.Ala331Pro)

dbSNP: rs1756285412
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV001249653 SCV001423616 uncertain significance Classic dopamine transporter deficiency syndrome 2018-03-13 criteria provided, single submitter clinical testing [ACMG/AMP: PM2, PP2, PP3] This alteration is absent from or rarely observed in large-scale population databases [PM2], is a missense variant in a gene in which missense variants are a common mechanism of disease [PP2], is predicted to be damaging by multiple functional prediction tools [PP3].

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