ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1698G>C (p.Gln566His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003154580 SCV003843013 uncertain significance Noonan syndrome 4 2023-01-24 criteria provided, single submitter clinical testing The SOS1 c.1698G>C (p.Gln566His) missense change is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL is inconclusive about a pathogenic or benign effect of this variant on protein function, and to our knowledge functional studies have not been performed. 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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