ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3114A>G (p.Ile1038Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001063075 SCV001227909 uncertain significance Noonan syndrome 9 2019-12-30 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 1038 of the SOS2 protein (p.Ile1038Met). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals 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: Deleterious; 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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