ClinVar Miner

Submissions for variant NM_001659.3(ARF3):c.277G>A (p.Asp93Asn)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital RCV002280595 SCV002549687 pathogenic Pectus excavatum; Microcephaly; Intellectual disability; Atrophy/Degeneration affecting the central nervous system; Hypotonia criteria provided, single submitter research
Institute of Human Genetics, University of Leipzig Medical Center RCV003224894 SCV003921011 likely pathogenic Autism; Bifid uvula; Global developmental delay; Motor delay; Self-injurious behavior; Delayed speech and language development; Abnormality of the dentition; Long neck; Delayed early-childhood social milestone development; Neurodevelopmental delay; Clinodactyly; Long ear 2023-03-21 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PS3, PM2_SUP, PM6_SUP, PP3
Institute of Human Genetics, University Hospital Muenster RCV003985555 SCV004801693 pathogenic See cases 2023-09-04 criteria provided, single submitter clinical testing ACMG categories: PS1,PS4,PM2,PM6
GeneDx RCV004729127 SCV005332273 pathogenic not provided 2024-03-27 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; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 36369169)

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