ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3260A>G (p.Asn1087Ser)

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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 RCV002811759 SCV003208071 uncertain significance Noonan syndrome 9 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1087 of the SOS2 protein (p.Asn1087Ser). This variant is not present in population databases (gnomAD no frequency). 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: 2006451). 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 with a negative predictive value of 95%. 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 RCV004064924 SCV003611262 uncertain significance Cardiovascular phenotype 2022-04-14 criteria provided, single submitter clinical testing The c.3260A>G (p.N1087S) alteration is located in exon 20 (coding exon 20) of the SOS2 gene. This alteration results from a A to G substitution at nucleotide position 3260, causing the asparagine (N) at amino acid position 1087 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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