ClinVar Miner

Submissions for variant NM_012250.6(RRAS2):c.68G>T (p.Gly23Val)

dbSNP: rs1591495779
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Total submissions: 2
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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 RCV000852396 SCV000902250 pathogenic Noonan syndrome 2019-04-01 criteria provided, single submitter research this is a pathogenic variant associated with Noonan Syndrome
GeneDx RCV003232089 SCV003929882 pathogenic not provided 2023-06-05 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect (Martinez-Martin et al., 2011); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31130282, 21820331)

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