Submissions for variant NM_004700.4(KCNQ4):c.140T>C (p.Leu47Pro)

dbSNP: rs1271250198

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mendelics	RCV000709614	SCV002516608	pathogenic	Autosomal dominant nonsyndromic hearing loss 2A	2022-05-04	criteria provided, single submitter	clinical testing
GeneDx	RCV004588157	SCV005079730	likely pathogenic	not provided	2024-06-21	criteria provided, single submitter	clinical testing	Published functional studies demonstrate a damaging effect; variant reduces voltage-gated potassium channel activity in a dominant negative mechanism (PMID: 30556268); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34712263, 36147510, 31434872, 37009795, 36597364, 34519870, 34515852, 36140355, 30556268)
Laboratory of Molecular Genetics, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine	RCV000709614	SCV000807694	pathogenic	Autosomal dominant nonsyndromic hearing loss 2A	2017-10-20	no assertion criteria provided	clinical testing	In family YUHL48, individual YUHL48-11 had moderate bilateral sensorineural hearing loss at the age of 18 years, which progressed to profound hearing loss by the age of 41 years.