ClinVar Miner

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

gnomAD frequency: 0.00016  dbSNP: rs201044262
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Total submissions: 8
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV000695877 SCV000824401 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764669 SCV000895799 uncertain significance Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000998884 SCV001155209 uncertain significance not provided 2021-11-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000193679 SCV001368314 uncertain significance Familial temporal lobe epilepsy 7 2020-04-02 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3,BS2.
GeneDx RCV000998884 SCV004034714 uncertain significance not provided 2023-09-05 criteria provided, single submitter clinical testing Reported in two individuals within a single family with lateral temporal epilepsy as well as auditory and/or aphasic seizures in published literature (Dazzo et al., 2015); Observed in the heterozygous state in one patient with epilepsy and multiple minor anomalies in published literature (Balicza et al., 2019); the RELN variant is inherited from the patient's unaffected father; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 29755699, 36011376, 31134136, 26046367, 27493482)
GeneReviews RCV000193679 SCV000245376 not provided Familial temporal lobe epilepsy 7 no assertion provided literature only
Diagnostic Laboratory, Strasbourg University Hospital RCV002274925 SCV002562842 likely benign Seizure no assertion criteria provided clinical testing

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