ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.2945G>A (p.Arg982Gln)

gnomAD frequency: 0.00001  dbSNP: rs1553351453
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588458 SCV000698627 uncertain significance not provided 2016-04-12 criteria provided, single submitter clinical testing Variant summary: The SOS1 c.2945G>A variant affects a non-conserved nucleotide, resulting in an amino acid change from Arg to Gln. 4/5 in-silico tools predict this variant to be benign. This variant was not found in approximately 121264 control chromosomes from the large and broad populations of ExAC. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories, nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant has currently been classified as a variant of uncertain significance (VUS) until additional information becomes available.
Labcorp Genetics (formerly Invitae), Labcorp RCV001860138 SCV002262901 uncertain significance RASopathy 2022-11-22 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 not expected to disrupt SOS1 protein function. ClinVar contains an entry for this variant (Variation ID: 496301). This missense change has been observed in individual(s) with clinical features of Noonan syndrome (PMID: 29907801). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 982 of the SOS1 protein (p.Arg982Gln).
Genome-Nilou Lab RCV002467908 SCV002763257 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467907 SCV002763258 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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