ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2758A>G (p.Ile920Val)

gnomAD frequency: 0.00007  dbSNP: rs755783805
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000796489 SCV000936006 uncertain significance Noonan syndrome 9 2024-06-25 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 920 of the SOS2 protein (p.Ile920Val). This variant is present in population databases (rs755783805, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SOS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 642933). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SOS2 protein function. 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.
Revvity Omics, Revvity RCV000796489 SCV003822090 uncertain significance Noonan syndrome 9 2019-08-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003396384 SCV004105389 uncertain significance SOS2-related disorder 2022-08-26 criteria provided, single submitter clinical testing The SOS2 c.2758A>G variant is predicted to result in the amino acid substitution p.Ile920Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.010% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/14-50606687-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003396383 SCV004122345 uncertain significance not specified 2024-09-08 criteria provided, single submitter clinical testing

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