Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV000201282 | SCV002803100 | likely pathogenic | Hypouricemia, renal, 2 | 2022-05-10 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
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 |