Submissions for variant NM_004700.4(KCNQ4):c.1259G>A (p.Arg420Gln)

gnomAD frequency: 0.00026  dbSNP: rs374078257

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000728415	SCV000855988	uncertain significance	not provided	2017-07-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000728415	SCV001769444	uncertain significance	not provided	2019-09-19	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV002533094	SCV003736158	uncertain significance	Inborn genetic diseases	2022-05-16	criteria provided, single submitter	clinical testing	The c.1259G>A (p.R420Q) alteration is located in exon 9 (coding exon 9) of the KCNQ4 gene. This alteration results from a G to A substitution at nucleotide position 1259, causing the arginine (R) at amino acid position 420 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab	RCV003446403	SCV004173698	uncertain significance	Autosomal dominant nonsyndromic hearing loss 2A	2023-04-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000728415	SCV005831158	likely benign	not provided	2024-11-25	criteria provided, single submitter	clinical testing