ClinVar Miner

Submissions for variant NM_019597.5(HNRNPH2):c.340C>T (p.Arg114Trp)

dbSNP: rs782191163
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University RCV001420155 SCV001622421 pathogenic Intellectual disability, X-linked, syndromic, Bain type 2021-05-13 criteria provided, single submitter clinical testing
GeneDx RCV001549775 SCV001769991 pathogenic not provided 2024-09-10 criteria provided, single submitter clinical testing 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: 31236915, 33728377, 34015165, 31943778, 32335897, 34907471, 37463454, 34490615, 33874999)
OMIM RCV001420155 SCV002769548 pathogenic Intellectual disability, X-linked, syndromic, Bain type 2022-12-20 no assertion criteria provided literature only

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