ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.560C>A (p.Ser187Tyr)

gnomAD frequency: 0.00001  dbSNP: rs730881038
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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 RCV002006352 SCV002274107 uncertain significance RASopathy 2023-04-07 criteria provided, single submitter clinical testing This variant is present in population databases (rs730881038, gnomAD 0.02%). This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 187 of the SOS1 protein (p.Ser187Tyr). This variant has not been reported in the literature in individuals affected with SOS1-related conditions. 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) 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. ClinVar contains an entry for this variant (Variation ID: 1487293).
Ambry Genetics RCV002344171 SCV002654151 uncertain significance Cardiovascular phenotype 2021-10-11 criteria provided, single submitter clinical testing The p.S187Y variant (also known as c.560C>A), located in coding exon 5 of the SOS1 gene, results from a C to A substitution at nucleotide position 560. The serine at codon 187 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is conserved. 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 RCV002468372 SCV002763524 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468371 SCV002763525 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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