ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2955G>A (p.Met985Ile)

gnomAD frequency: 0.00005  dbSNP: rs367670036
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001927744 SCV002176186 likely benign Noonan syndrome 9 2023-08-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004746497 SCV005354896 uncertain significance SOS2-related disorder 2024-09-18 no assertion criteria provided clinical testing The SOS2 c.2955G>A variant is predicted to result in the amino acid substitution p.Met985Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0055% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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