ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) (rs201044262)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,University of Goettingen RCV000627091 SCV000747842 uncertain significance Norman-Roberts syndrome 2018-05-15 criteria provided, single submitter clinical testing
Invitae RCV000695877 SCV000824401 uncertain significance Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 2018-12-03 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 672 of the RELN protein (p.Pro672Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs201044262, ExAC 0.03%). This variant has been observed in a family affected with auditory/phasic focal seizures (PMID: 26046367). ClinVar contains an entry for this variant (Variation ID: 208481). 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"). 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 RCV000764669 SCV000895799 uncertain significance Familial temporal lobe epilepsy 1; Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000998884 SCV001155209 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
GeneReviews RCV000193679 SCV000245376 pathogenic Epilepsy, familial temporal lobe, 7 2015-08-27 no assertion criteria provided literature only

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