Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV000013769 | SCV002806740 | pathogenic | Familial renal glucosuria | 2021-08-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003407325 | SCV004107877 | pathogenic | SLC5A2-related condition | 2023-12-11 | criteria provided, single submitter | clinical testing | The SLC5A2 c.500delA variant is predicted to result in a frameshift and premature protein termination (p.Gln167Argfs*20). This variant has been reported in the compound heterozygous state in an individual with Renal glucosuria (Calado et al. 2004. PubMed ID: 14614622; Supplement, Hureaux et al. 2019. PubMed ID: 31672324). This variant is reported in 0.0040% of alleles in individuals of African descent in gnomAD. Frameshift variants in SLC5A2 are expected to be pathogenic. This variant is interpreted as pathogenic. |
OMIM | RCV000013769 | SCV000034016 | pathogenic | Familial renal glucosuria | 2004-02-01 | no assertion criteria provided | literature only |