Submissions for variant NM_004519.4(KCNQ3):c.2491C>T (p.Arg831Trp)

gnomAD frequency: 0.00006  dbSNP: rs185628977

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001721203	SCV000241562	likely benign	not provided	2019-04-30	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000187959	SCV000613883	uncertain significance	not specified	2017-07-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314725	SCV000849137	uncertain significance	Inborn genetic diseases	2017-02-28	criteria provided, single submitter	clinical testing	The p.R831W variant (also known as c.2491C>T), located in coding exon 15 of the KCNQ3 gene, results from a C to T substitution at nucleotide position 2491. The arginine at codon 831 is replaced by tryptophan, an amino acid with dissimilar properties. This variant did not co-segregate with disease in three individuals tested in our laboratory. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000861903	SCV001002318	likely benign	Benign neonatal seizures	2024-10-23	criteria provided, single submitter	clinical testing