ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3064C>A (p.Pro1022Thr)

dbSNP: rs2139528591
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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 RCV001928586 SCV002179564 uncertain significance Noonan syndrome 9 2022-08-22 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. ClinVar contains an entry for this variant (Variation ID: 1414228). This variant has not been reported in the literature in individuals affected with SOS2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1022 of the SOS2 protein (p.Pro1022Thr).
Ambry Genetics RCV002449581 SCV002752985 uncertain significance Cardiovascular phenotype 2021-09-21 criteria provided, single submitter clinical testing The p.P1022T variant (also known as c.3064C>A), located in coding exon 19 of the SOS2 gene, results from a C to A substitution at nucleotide position 3064. The proline at codon 1022 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001928586 SCV002763014 uncertain significance Noonan syndrome 9 criteria provided, single submitter clinical testing

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