ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2413A>G (p.Ser805Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002611724 SCV003508297 uncertain significance Noonan syndrome 9 2022-04-21 criteria provided, single submitter clinical testing This variant is present in population databases (rs768729855, gnomAD 0.007%). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 805 of the SOS2 protein (p.Ser805Gly). This variant has not been reported in the literature in individuals affected with SOS2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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