ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1291G>A (p.Gly431Ser)

dbSNP: rs1223347034
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508985 SCV001715449 uncertain significance not provided 2021-01-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001865950 SCV002117369 uncertain significance RASopathy 2025-01-29 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 431 of the SOS1 protein (p.Gly431Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SOS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1163704). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SOS1 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.
Genome-Nilou Lab RCV002468257 SCV002763437 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468256 SCV002763438 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing
Ambry Genetics RCV005278868 SCV005947550 uncertain significance Cardiovascular phenotype 2025-01-10 criteria provided, single submitter clinical testing The p.G431S variant (also known as c.1291G>A), located in coding exon 10 of the SOS1 gene, results from a G to A substitution at nucleotide position 1291. The glycine at codon 431 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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