ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.842T>C (p.Leu281Ser) (rs80358278)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000006624 SCV001448747 pathogenic Autosomal dominant nonsyndromic hearing loss 2A 2018-12-05 criteria provided, single submitter clinical testing
GeneDx RCV001567939 SCV001791714 pathogenic not provided 2020-01-17 criteria provided, single submitter clinical testing Published functional studies demonstrate the L281S mutation leads to non-functional channels and improper trafficking of mutant channels to the cell surface with a dominant negative effect on WT channels (Kim et al., 2011; Gao et al., 2013); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 10571947, 23776385, 18797286, 12408061, 26036578, 24616153, 11252765, 28802383, 25116015, 23399560, 21951272, 17033161, 23750663, 20966080, 22785243)
OMIM RCV000006624 SCV000026807 pathogenic Autosomal dominant nonsyndromic hearing loss 2A 2011-01-14 no assertion criteria provided literature only
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000006624 SCV000777818 pathogenic Autosomal dominant nonsyndromic hearing loss 2A 2015-08-20 no assertion criteria provided literature only

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