Submissions for variant NM_005045.4(RELN):c.4907A>G (p.Asp1636Gly)

gnomAD frequency: 0.00001  dbSNP: rs587780439

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118152	SCV000152501	uncertain significance	not provided	2013-12-05	criteria provided, single submitter	clinical testing
Invitae	RCV000696494	SCV000825057	likely benign	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2023-10-22	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000764662	SCV000895792	uncertain significance	Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2022-04-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000118152	SCV001772721	uncertain significance	not provided	2020-11-03	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity	RCV003133135	SCV003813838	uncertain significance	Norman-Roberts syndrome	2020-07-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003278667	SCV003967325	uncertain significance	Inborn genetic diseases	2023-03-21	criteria provided, single submitter	clinical testing	The c.4907A>G (p.D1636G) alteration is located in exon 33 (coding exon 33) of the RELN gene. This alteration results from a A to G substitution at nucleotide position 4907, causing the aspartic acid (D) at amino acid position 1636 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.