ClinVar Miner

Submissions for variant NM_002524.5(NRAS):c.203G>T (p.Arg68Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Otorhinolaryngology, Head and Neck Surgery, Inje University Ilsan Paik Hospital RCV004698372 SCV005199863 pathogenic Noonan syndrome 6 2024-03-30 criteria provided, single submitter clinical testing The c.203G>T variant in NRAS has not been previously reported with suspected or confirmed Noonan syndrome. This variant is not present in population databases (gnomAD no frequency). This variant has been identified by our laboratory in one individual with clinical features of Noonan Syndrome and was absent from large population studies. It is expected to result in an absent or disrupted protein product due to gain-of-function variants in NRAS (PMID: 28098151). In summary, this variant meets criteria to be classified as pathogenic for Noonan syndrome based on the ACMG/AMP criteria.
MVZ Medizinische Genetik Mainz RCV004698372 SCV005200640 uncertain significance Noonan syndrome 6 2024-07-22 criteria provided, single submitter clinical testing ACMG Criteria: PM2_SUP_MOD,PP2,PP3

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