ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1357G>A (p.Val453Ile)

dbSNP: rs1669848256
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001247380 SCV001420796 uncertain significance RASopathy 2022-10-25 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. 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 SOS1 protein function. ClinVar contains an entry for this variant (Variation ID: 971571). 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 valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 453 of the SOS1 protein (p.Val453Ile).
Ambry Genetics RCV002379947 SCV002689316 uncertain significance Cardiovascular phenotype 2019-07-29 criteria provided, single submitter clinical testing The p.V453I variant (also known as c.1357G>A), located in coding exon 10 of the SOS1 gene, results from a G to A substitution at nucleotide position 1357. The valine at codon 453 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. 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 RCV002468207 SCV002763419 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468206 SCV002763420 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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