ClinVar Miner

Submissions for variant NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp)

gnomAD frequency: 0.00003  dbSNP: rs121908321
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000004859 SCV000845517 uncertain significance Hypouricemia, renal, 2 2018-08-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000004859 SCV002023550 likely pathogenic Hypouricemia, renal, 2 2023-09-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002512777 SCV003525769 uncertain significance not provided 2022-12-06 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with hypouricemia (PMID: 19026395, 24397858, 24940677). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 380 of the SLC2A9 protein (p.Arg380Trp). This variant is present in population databases (rs121908321, gnomAD 0.1%). ClinVar contains an entry for this variant (Variation ID: 4596). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Experimental studies have shown that this missense change affects SLC2A9 function (PMID: 19026395, 29967582). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000004859 SCV000025035 pathogenic Hypouricemia, renal, 2 2014-01-01 no assertion criteria provided literature only
Baylor Genetics RCV000004859 SCV000328773 pathogenic Hypouricemia, renal, 2 2014-08-25 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in SLC2A9 (NM_020041.2, c.1138C>T) and ETHE1 (homozygous deletion) in one individual with reported features that include hypotonia, retinal visual abnormalities, and nephrotic syndrome. The SLC2A9 variant has been previously reported as disease-causing (PMID 19026395, 24397858, 22132964) and was found in one other individual: a 10-year-old male with autism spectrum, tics, macrocephaly.
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000004859 SCV001133236 likely pathogenic Hypouricemia, renal, 2 2019-09-26 no assertion criteria provided clinical testing

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