ClinVar Miner

Submissions for variant NM_177550.4(SLC13A5):c.655G>A (p.Gly219Arg) (rs144332569)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000128860 SCV000655338 pathogenic Epileptic encephalopathy, early infantile, 25 2020-09-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 219 of the SLC13A5 protein (p.Gly219Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs144332569, ExAC 0.03%). This variant has been reported to segregate with autosomal recessive epileptic encephalopathy (PMID: 24995870, 26384929, 27261973, 26960556). ClinVar contains an entry for this variant (Variation ID: 140752). Experimental studies have shown that this missense change results in an inactive sodium-citrate transporter (NaCT) (PMID: 26384929, 27261973). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000128860 SCV000894146 likely pathogenic Epileptic encephalopathy, early infantile, 25 2018-10-31 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000128860 SCV000965826 pathogenic Epileptic encephalopathy, early infantile, 25 2014-01-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000128860 SCV000992831 pathogenic Epileptic encephalopathy, early infantile, 25 2017-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000128860 SCV001140224 pathogenic Epileptic encephalopathy, early infantile, 25 2019-05-28 criteria provided, single submitter clinical testing
Institute of Human Genetics, Klinikum rechts der Isar RCV000128860 SCV001430126 pathogenic Epileptic encephalopathy, early infantile, 25 2019-06-11 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001311105 SCV001501150 pathogenic not provided 2020-08-01 criteria provided, single submitter clinical testing
OMIM RCV000128860 SCV000172714 pathogenic Epileptic encephalopathy, early infantile, 25 2015-11-01 no assertion criteria provided literature only
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000128860 SCV000494179 pathogenic Epileptic encephalopathy, early infantile, 25 no assertion criteria provided research This variant was identified as compound heterozygous in an individual with epileptic encephalopathy.
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000128860 SCV001133192 pathogenic Epileptic encephalopathy, early infantile, 25 2019-09-26 no assertion criteria provided clinical testing

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