ClinVar Miner

Submissions for variant NM_003041.4(SLC5A2):c.500del (p.Gln167fs)

gnomAD frequency: 0.00008  dbSNP: rs267607067
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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 RCV000013769 SCV002806740 pathogenic Familial renal glucosuria 2021-08-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences 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

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