ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.2661C>A (p.Asp887Glu)

dbSNP: rs2124503229
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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 RCV001992927 SCV002235306 uncertain significance RASopathy 2021-09-03 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with SOS1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with glutamic acid at codon 887 of the SOS1 protein (p.Asp887Glu). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and glutamic acid.
Mayo Clinic Laboratories, Mayo Clinic RCV002261431 SCV002541810 uncertain significance not provided 2021-06-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468366 SCV002763279 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468365 SCV002763280 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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