ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3497T>C (p.Met1166Thr)

gnomAD frequency: 0.00003  dbSNP: rs764483791
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001988532 SCV002277336 uncertain significance Noonan syndrome 9 2021-11-11 criteria provided, single submitter clinical testing 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. 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) performed at Invitae indicates that this missense variant is not expected to disrupt SOS2 protein function. This variant has not been reported in the literature in individuals affected with SOS2-related conditions. This variant is present in population databases (rs764483791, gnomAD 0.02%). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1166 of the SOS2 protein (p.Met1166Thr).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002300641 SCV002598850 uncertain significance not specified 2022-09-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001988532 SCV002762993 uncertain significance Noonan syndrome 9 criteria provided, single submitter clinical testing

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