ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.2446A>G (p.Ile816Val)

dbSNP: rs2124511484
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001989122 SCV002282716 uncertain significance RASopathy 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 816 of the SOS1 protein (p.Ile816Val). 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: 1492084). 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) has been performed at Invitae 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.
Ambry Genetics RCV002425385 SCV002731518 uncertain significance Cardiovascular phenotype 2021-12-08 criteria provided, single submitter clinical testing The p.I816V variant (also known as c.2446A>G), located in coding exon 15 of the SOS1 gene, results from an A to G substitution at nucleotide position 2446. The isoleucine at codon 816 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV002468374 SCV002763305 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468373 SCV002763306 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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