ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.139G>A (p.Glu47Lys) (rs139648092)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000421637 SCV000113131 uncertain significance not provided 2016-05-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317927 SCV000465995 uncertain significance Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000421637 SCV000510936 uncertain significance not provided 2016-08-19 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV000653007 SCV000774881 uncertain significance Lissencephaly 2; Epilepsy, familial temporal lobe, 7 2018-11-29 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 47 of the RELN protein (p.Glu47Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs139648092, ExAC 0.05%). This variant has been observed in individuals affected with Rolandic epilepsy, as well as in an unaffected individual (PMID: 29358611). ClinVar contains an entry for this variant (Variation ID: 95211). 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: "Benign"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics,Fulgent Genetics RCV000764677 SCV000895807 uncertain significance Familial temporal lobe epilepsy 1; Lissencephaly 2; Epilepsy, familial temporal lobe, 7 2018-10-31 criteria provided, single submitter clinical testing
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656004 SCV000588280 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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