ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.2089G>T (p.Val697Leu)

gnomAD frequency: 0.00001  dbSNP: rs966388444
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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 RCV000695974 SCV000824515 uncertain significance RASopathy 2023-12-06 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 697 of the SOS1 protein (p.Val697Leu). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 574128). 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 RCV002422528 SCV002727149 uncertain significance Cardiovascular phenotype 2023-02-02 criteria provided, single submitter clinical testing The p.V697L variant (also known as c.2089G>T), located in coding exon 13 of the SOS1 gene, results from a G to T substitution at nucleotide position 2089. The valine at codon 697 is replaced by leucine, 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 RCV002468011 SCV002763337 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468010 SCV002763338 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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