ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.891G>T (p.Arg297Ser)

dbSNP: rs797044971
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001762405 SCV001988695 uncertain significance not provided 2020-10-16 criteria provided, single submitter clinical testing Variant identified in a mother and son with nonsyndromic hearing loss (Naito et al., 2013); Not observed in large population cohorts (Lek et al., 2016); 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: 23717403)
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000655882 SCV000777811 pathogenic Autosomal dominant nonsyndromic hearing loss 2A 2015-08-20 no assertion criteria provided literature only

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