ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.1156G>C (p.Asp386His)

gnomAD frequency: 0.00002  dbSNP: rs776909576
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001806750 SCV002051116 uncertain significance not specified 2021-12-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001885257 SCV002258490 uncertain significance Noonan syndrome 9 2023-05-22 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: 1331406). This variant has not been reported in the literature in individuals affected with SOS2-related conditions. This variant is present in population databases (rs776909576, gnomAD 0.006%). This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 386 of the SOS2 protein (p.Asp386His).
Ambry Genetics RCV002359263 SCV002621485 uncertain significance Cardiovascular phenotype 2021-10-13 criteria provided, single submitter clinical testing The p.D386H variant (also known as c.1156G>C), located in coding exon 9 of the SOS2 gene, results from a G to C substitution at nucleotide position 1156. The aspartic acid at codon 386 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001885257 SCV002763095 uncertain significance Noonan syndrome 9 criteria provided, single submitter clinical testing

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