ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3773C>T (p.Ser1258Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003399808 SCV004105476 uncertain significance SOS2-related disorder 2023-06-26 criteria provided, single submitter clinical testing The SOS2 c.3773C>T variant is predicted to result in the amino acid substitution p.Ser1258Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/14-50585288-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV003778194 SCV004623943 likely benign Noonan syndrome 9 2023-01-10 criteria provided, single submitter clinical testing

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