ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.2491C>G (p.Leu831Val)

dbSNP: rs2124511437
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752623 SCV001997528 uncertain significance not provided 2020-01-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV002425053 SCV002741023 uncertain significance Cardiovascular phenotype 2021-04-05 criteria provided, single submitter clinical testing The p.L831V variant (also known as c.2491C>G), located in coding exon 15 of the SOS1 gene, results from a C to G substitution at nucleotide position 2491. The leucine at codon 831 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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 RCV002468305 SCV002763297 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468304 SCV002763298 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003539404 SCV004274277 uncertain significance RASopathy 2023-01-07 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1311640). This variant has not been reported in the literature in individuals affected with SOS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 831 of the SOS1 protein (p.Leu831Val).

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