ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.2567T>C (p.Ile856Thr)

gnomAD frequency: 0.00002  dbSNP: rs778865680
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002024200 SCV002308599 uncertain significance RASopathy 2024-11-11 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 856 of the SOS1 protein (p.Ile856Thr). This variant is present in population databases (rs778865680, gnomAD 0.006%). This missense change has been observed in individual(s) with SOS1-related conditions (PMID: 35352813). ClinVar contains an entry for this variant (Variation ID: 1518896). Invitae Evidence 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 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.
AiLife Diagnostics, AiLife Diagnostics RCV002223339 SCV002501126 uncertain significance not provided 2022-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002425433 SCV002740256 uncertain significance Cardiovascular phenotype 2021-11-04 criteria provided, single submitter clinical testing The p.I856T variant (also known as c.2567T>C), located in coding exon 16 of the SOS1 gene, results from a T to C substitution at nucleotide position 2567. The isoleucine at codon 856 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV002468383 SCV002763286 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468382 SCV002763287 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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