ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.2973T>G (p.Phe991Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002904338 SCV003256829 likely benign RASopathy 2022-10-10 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003230299 SCV003928141 uncertain significance Noonan syndrome 4 2023-05-03 criteria provided, single submitter clinical testing The SOS1 c.2973T>G (p.Phe991Leu) missense change has a maximum subpopulation frequency of 0.0009% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with Noonan syndrome. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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