ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.1537G>C (p.Glu513Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002886133 SCV003245815 uncertain significance Noonan syndrome 9 2023-03-20 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 SOS2 protein function. ClinVar contains an entry for this variant (Variation ID: 2039931). 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 glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 513 of the SOS2 protein (p.Glu513Gln).
Ambry Genetics RCV004990900 SCV005509573 uncertain significance Cardiovascular phenotype 2024-07-14 criteria provided, single submitter clinical testing The c.1537G>C (p.E513Q) alteration is located in exon 10 (coding exon 10) of the SOS2 gene. This alteration results from a G to C substitution at nucleotide position 1537, causing the glutamic acid (E) at amino acid position 513 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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