ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1379A>G (p.His460Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224737 SCV003920497 uncertain significance Fibromatosis, gingival, 1; Noonan syndrome 4 2021-03-30 criteria provided, single submitter clinical testing SOS1 NM_005633.3 exon 10 p.His460Arg (c.1379A>G): This variant has not been reported in the literature and is absent from large control databases. Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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