ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.937C>T (p.Leu313Phe)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000266134 SCV000333409 uncertain significance not provided 2018-05-23 criteria provided, single submitter clinical testing
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001004727 SCV001164197 likely pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 4 2018-02-15 criteria provided, single submitter clinical testing
GeneDx RCV000266134 SCV003930560 uncertain significance not provided 2022-12-06 criteria provided, single submitter clinical testing De novo variant with confirmed parentage in a patient referred for genetic testing at GeneDx; however, the reported clinical features are only partially consistent with the features typically observed in individuals with pathogenic variants in this gene; 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; Has not been previously published as pathogenic or benign to our knowledge

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