ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1479G>T (p.Lys493Asn)

dbSNP: rs2124537221
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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 RCV001864877 SCV002123161 uncertain significance RASopathy 2021-06-09 criteria provided, single submitter clinical testing 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) performed at Invitae indicates that this missense variant is expected to disrupt SOS1 protein function. This variant has not been reported in the literature in individuals with SOS1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with asparagine at codon 493 of the SOS1 protein (p.Lys493Asn). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and asparagine.

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