Submissions for variant NM_005045.4(RELN):c.1001G>A (p.Arg334His)

gnomAD frequency: 0.00091  dbSNP: rs146922726

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000395035	SCV000340831	uncertain significance	not provided	2016-05-12	criteria provided, single submitter	clinical testing
Invitae	RCV001087819	SCV000656250	likely benign	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2024-01-23	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000764675	SCV000895805	uncertain significance	Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2018-10-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001159159	SCV001320847	uncertain significance	Norman-Roberts syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000395035	SCV001784851	likely benign	not provided	2020-06-26	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001820826	SCV002065670	uncertain significance	not specified	2021-08-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002521963	SCV003615224	likely benign	Inborn genetic diseases	2021-10-22	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen	RCV000395035	SCV004155703	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	RELN: BP4, BS1
PreventionGenetics, part of Exact Sciences	RCV003949888	SCV004758192	likely benign	RELN-related condition	2022-05-19	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).