ClinVar Miner

Submissions for variant NM_003041.4(SLC5A2):c.885+5G>A (rs200228142)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779183 SCV000915712 pathogenic Familial renal glucosuria 2018-10-11 criteria provided, single submitter clinical testing The SLC5A2 c.885+5G>A variant has been reported in three studies and was found in a total of 10 unrelated probands with renal glucosuria, including three probands in a homozygous state, five probands in a compound heterozygous state, and two probands in a heterozygous state (Santer et al. 2003; Calado et al. 2008; Aires et al. 2013). This variant was also identified in 21 family members of these probands, including in a homozygous state in one individual, in a compound heterozygous state in two individuals, and in a heterozygous state in 18 individuals. The homozygous and compound heterozygous probands and family members all exhibited a more severe phenotype; nine of the 20 heterozygous individuals exhibited a milder phenotype. Control data are unavailable for this variant, which is reported at a frequency of 0.00073 in the South Asian population of the Exome Aggregation Consortium. Based on the collective evidence, the c.885+5G>A variant is classified as pathogenic for renal glucosuria. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Mendelics RCV000779183 SCV001140099 likely pathogenic Familial renal glucosuria 2019-05-28 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000779183 SCV001752652 likely pathogenic Familial renal glucosuria 2021-06-30 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000779183 SCV001468227 likely pathogenic Familial renal glucosuria 2020-09-07 no assertion criteria provided clinical testing
GeneDx RCV001578007 SCV001805519 likely pathogenic not provided 2021-04-01 no assertion criteria provided clinical testing Intronic +5 splice site variant in a gene for which loss-of-function is a known mechanism of disease, and splice predictors support a deleterious effect; This variant is associated with the following publications: (PMID: 9101293, 10653324, 30609409, 14569097, 18622023, 27666404, 3658675)

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