ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1727G>T (p.Arg576Ile)

gnomAD frequency: 0.00001  dbSNP: rs1553356023
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000596268 SCV000709740 uncertain significance not specified 2018-03-01 criteria provided, single submitter clinical testing Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: not present in GnomAD-2:39249842 C / A-good coverage; Not in ClinVar, Google search or HGMD; predicted benign by polyphen
Mendelics RCV000986621 SCV001135663 uncertain significance Noonan syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198714 SCV001369709 uncertain significance Fibromatosis, gingival, 1 2019-05-20 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3,PM2.
Labcorp Genetics (formerly Invitae), Labcorp RCV001203746 SCV001374922 uncertain significance RASopathy 2022-06-20 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 expected to disrupt SOS1 protein function. ClinVar contains an entry for this variant (Variation ID: 503551). This variant has not been reported in the literature in individuals affected with SOS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with isoleucine, which is neutral and non-polar, at codon 576 of the SOS1 protein (p.Arg576Ile).
Genome-Nilou Lab RCV002467920 SCV002763375 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001198714 SCV002763376 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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