ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.*234G>A

dbSNP: rs2139461520
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002266644 SCV002548681 uncertain significance Noonan syndrome 9 2021-07-16 criteria provided, single submitter clinical testing The de novo c.*234G>A variant identified in the SOS2 gene is the substitution of a moderately conserved Cytosine for Thymine (at the DNA level) in the 3'UTR of SOS2. This variant is absent from gnomAD(v3.1.1) suggesting it is not a common benign variant in the populations represented in that database. This variant is absent from ClinVar and to our current knowledge has not been reported in affected individuals in the literature. While it is present de novo in the affected individual and absent in population databases, the lack of uncertainty regarding the functional consequence of the 3'UTR c.*234G>A variant identified in the SOS2 gene results in its classification as a Variant of Uncertain Significance.

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