ClinVar Miner

Submissions for variant NM_020041.3(SLC2A9):c.224T>G (p.Leu75Arg)

gnomAD frequency: 0.00003  dbSNP: rs863225072
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000201282 SCV002803100 likely pathogenic Hypouricemia, renal, 2 2022-05-10 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV003417728 SCV004118369 likely pathogenic SLC2A9-related condition 2022-11-22 criteria provided, single submitter clinical testing The SLC2A9 c.224T>G variant is predicted to result in the amino acid substitution p.Leu75Arg. This variant has been reported in an individuals with autosomal recessive renal hypouricaemia, and functional studies support its pathogenicity (Dinour et al 2010. PubMed ID: 19926891; Ruiz A et al 2018. PubMed ID: 29967582; Capalbo A et al 2019. PubMed ID: 31589614). This variant is reported in 0.0040% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-10020624-A-C). This variant is interpreted as likely pathogenic.
OMIM RCV000201282 SCV000256065 pathogenic Hypouricemia, renal, 2 2010-01-01 no assertion criteria provided literature only

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