ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1988T>A (p.Ile663Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003848664 SCV004647725 uncertain significance RASopathy 2023-08-06 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 663 of the SOS1 protein (p.Ile663Lys). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SOS1-related conditions. 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.

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