Submissions for variant NM_005045.4(RELN):c.5225G>A (p.Arg1742Gln)

gnomAD frequency: 0.00031  dbSNP: rs199553777

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000538014	SCV000656313	likely benign	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2024-01-28	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000765912	SCV000897332	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	RCV001163587	SCV001325643	uncertain significance	Norman-Roberts syndrome	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics	RCV002526724	SCV003559222	uncertain significance	Inborn genetic diseases	2021-09-05	criteria provided, single submitter	clinical testing	Unlikely to be causative of RELN-related lateral temporal epilepsy (AD) based on population frequency in gnomAD. However, the clinical significance for RELN-related lissencephaly (AR) remains unclear (Bonora, 2003; Lammert, 2017). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV003884639	SCV004699881	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	RELN: BS2