ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.1856C>G (p.Ser619Trp)

dbSNP: rs121909095
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003441708 SCV004170698 pathogenic not provided 2023-10-31 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect with increased GTPase activity (PMID: 20700106); 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: 24077912, 20700106, 17932957, 25214167, 16227997)
OMIM RCV000007709 SCV000027910 pathogenic Severe X-linked myotubular myopathy 2007-12-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447079 SCV004174710 uncertain significance Charcot-Marie-Tooth disease dominant intermediate B 2016-01-06 no assertion criteria provided literature only

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