ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2220A>T (p.Gln740His)

dbSNP: rs576277421
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002208784 SCV002495970 uncertain significance Noonan syndrome 9 2021-05-13 criteria provided, single submitter clinical testing SOS2 NM_006939.3 exon 14 p.Gln740His (c.2220A>T): This variant has not been reported in the literature but is present in 0.03% (5/15276) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/14-50150172-T-G?dataset=gnomad_r3). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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