Submissions for variant NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del)

dbSNP: rs762015967

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723979	SCV000231401	uncertain significance	not provided	2014-05-29	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000179194	SCV000596758	uncertain significance	not specified	2016-01-05	criteria provided, single submitter	clinical testing
Invitae	RCV000653024	SCV000774898	benign	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2024-01-22	criteria provided, single submitter	clinical testing
New York Genome Center	RCV001281438	SCV001468746	uncertain significance	Seizure	2019-07-12	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000723979	SCV001713411	uncertain significance	not provided	2021-11-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000723979	SCV001782744	uncertain significance	not provided	2023-05-12	criteria provided, single submitter	clinical testing	In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000653024	SCV002495923	uncertain significance	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2022-02-15	criteria provided, single submitter	clinical testing	RELN NM_005045.3 exon 57 p.Lys3100del (c.9298_9300del): This variant has not been reported in the literature but is present in 0.2% (85/41368) of African alleles including 1 homozygote in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/7-103495791-CCTT-C?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:198005). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant represents an in-frame deletion of 1 amino acid at position 3100 and is not predicted to alter the reading frame. However, the effect of this variant on the protein is unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Ambry Genetics	RCV002516789	SCV003568828	likely benign	Inborn genetic diseases	2021-07-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV004539680	SCV004787599	likely benign	RELN-related disorder	2022-07-14	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).