ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.532C>G (p.Gln178Glu)

gnomAD frequency: 0.00004  dbSNP: rs770603835
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001878761 SCV002134839 likely benign Noonan syndrome 9 2023-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343934 SCV002640796 uncertain significance Cardiovascular phenotype 2024-06-14 criteria provided, single submitter clinical testing The p.Q178E variant (also known as c.532C>G), located in coding exon 5 of the SOS2 gene, results from a C to G substitution at nucleotide position 532. The glutamine at codon 178 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001878761 SCV002763134 uncertain significance Noonan syndrome 9 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002469418 SCV002766338 likely benign not specified 2022-11-14 criteria provided, single submitter clinical testing Variant summary: SOS2 c.532C>G (p.Gln178Glu) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 5.9e-05 in 237706 control chromosomes (gnomAD). The observed variant frequency is approximately 24 fold of the estimated maximal expected allele frequency for a pathogenic variant in SOS2 causing Noonan Syndrome phenotype (2.5e-06), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.532C>G in individuals affected with Noonan Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as likely benign.
Fulgent Genetics, Fulgent Genetics RCV001878761 SCV002798306 uncertain significance Noonan syndrome 9 2022-01-12 criteria provided, single submitter clinical testing

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