Submissions for variant NM_004700.4(KCNQ4):c.735G>A (p.Gly245=)

gnomAD frequency: 0.00016  dbSNP: rs147751558

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000608688	SCV000711086	likely benign	not specified	2016-07-05	criteria provided, single submitter	clinical testing	p.Gly245Gly in exon 05 of KCNQ4: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 9/66470 European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs147751558).
GeneDx	RCV000841028	SCV000982984	likely benign	not provided	2018-03-21	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000841028	SCV001034415	likely benign	not provided	2023-07-26	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003446172	SCV004173186	likely benign	Autosomal dominant nonsyndromic hearing loss 2A	2023-04-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003980122	SCV004786445	likely benign	KCNQ4-related disorder	2020-03-10	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).