ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.715-18_715-17inv

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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 RCV003592822 SCV004271595 uncertain significance Noonan syndrome 9 2023-06-16 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the SOS2 gene. It does not directly change the encoded amino acid sequence of the SOS2 protein. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with SOS2-related conditions. 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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