Submissions for variant NM_000744.7(CHRNA4):c.1721T>C (p.Ile574Thr)

gnomAD frequency: 0.00001  dbSNP: rs139657121

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000702830	SCV000831701	likely benign	Autosomal dominant nocturnal frontal lobe epilepsy	2024-07-17	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000991787	SCV001143534	uncertain significance	not provided	2019-04-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002397463	SCV002714194	uncertain significance	Inborn genetic diseases	2018-12-12	criteria provided, single submitter	clinical testing	The p.I574T variant (also known as c.1721T>C), located in coding exon 5 of the CHRNA4 gene, results from a T to C substitution at nucleotide position 1721. The isoleucine at codon 574 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	RCV000781970	SCV000920425	uncertain significance	Seizure	2016-10-11	no assertion criteria provided	clinical testing