ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.260T>C (p.Ile87Thr)

gnomAD frequency: 0.00003  dbSNP: rs747274422
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002004015 SCV002296444 uncertain significance Noonan syndrome 9 2023-10-04 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 87 of the SOS2 protein (p.Ile87Thr). This variant is present in population databases (rs747274422, gnomAD 0.0009%). 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: 1505346). 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. 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.
Ambry Genetics RCV002441198 SCV002745555 uncertain significance Cardiovascular phenotype 2021-08-26 criteria provided, single submitter clinical testing The p.I87T variant (also known as c.260T>C), located in coding exon 3 of the SOS2 gene, results from a T to C substitution at nucleotide position 260. The isoleucine at codon 87 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV002004015 SCV002763146 uncertain significance Noonan syndrome 9 criteria provided, single submitter clinical testing

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