ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3568A>G (p.Lys1190Glu)

dbSNP: rs1553349579
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000597747 SCV000709738 uncertain significance not specified 2018-03-01 criteria provided, single submitter clinical testing Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Not present in GnomAd-2:39213399 T / C; Not in ClinVar, Google search or HGMD; predicted probably damaging; well conserved
Labcorp Genetics (formerly Invitae), Labcorp RCV003655140 SCV004473768 uncertain significance RASopathy 2023-02-14 criteria provided, single submitter clinical testing 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: 503550). 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. 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 1190 of the SOS1 protein (p.Lys1190Glu).

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