ClinVar Miner

Submissions for variant NM_001042681.2(RERE):c.4304A>G (p.His1435Arg)

dbSNP: rs1553154130
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000626037 SCV000746652 likely pathogenic Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 2016-10-17 criteria provided, single submitter clinical testing This individual has been reported in PMID: 29330883 (subject 5).
Daryl Scott Lab, Baylor College of Medicine RCV000626037 SCV000808917 pathogenic Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 2017-09-12 criteria provided, single submitter clinical testing
GeneDx RCV003128667 SCV003805512 pathogenic not provided 2023-02-24 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: 29330883)
OMIM RCV000626037 SCV002520461 pathogenic Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 2022-04-19 no assertion criteria provided literature only

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