ClinVar Miner

Submissions for variant NM_144585.4(SLC22A12):c.1096G>C (p.Gly366Arg)

gnomAD frequency: 0.00001  dbSNP: rs1047976958
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091627 SCV001247777 pathogenic not provided 2017-07-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004756168 SCV005359082 uncertain significance SLC22A12-related disorder 2024-09-20 no assertion criteria provided clinical testing The SLC22A12 c.1096G>C variant is predicted to result in the amino acid substitution p.Gly366Arg. This variant was reported in compound heterozygous state in an individual with renal hypouricaemia (Stiburkova et al. 2013. PubMed ID: 23386035). Functional studies showed significantly decreased urate uptake, a mis-localized URAT1 signal and revealed a dominant negative effect by causing ER retention of both mutant and wild type proteins (Stiburkova et al. 2013. PubMed ID: 23386035; Stiburkova et al 2015. PubMed ID: 26418379). This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Although we suspect this variant could be pathogenic, its significance remains uncertain at the moment.

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