ClinVar Miner

Submissions for variant NM_001042681.2(RERE):c.4293C>A (p.His1431Gln)

dbSNP: rs869312871
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000210403 SCV000258448 likely pathogenic Cerebral visual impairment and intellectual disability 2015-09-09 criteria provided, single submitter research This study shows that diverse genetic causes underlie CVI.
GeneDx RCV000522084 SCV000618453 pathogenic not provided 2022-11-17 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: 26350515, 27087320)
Ambry Genetics RCV001265937 SCV001444109 likely pathogenic Inborn genetic diseases 2018-08-17 criteria provided, single submitter clinical testing
OMIM RCV000225351 SCV000282055 pathogenic Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 2018-01-08 no assertion criteria provided literature only

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