ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3290G>C (p.Ser1097Thr)

gnomAD frequency: 0.00001  dbSNP: rs727505379
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159180 SCV000209126 uncertain significance not provided 2023-06-12 criteria provided, single submitter clinical testing Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004668750 SCV005170279 uncertain significance Cardiovascular phenotype 2024-04-28 criteria provided, single submitter clinical testing The p.S1097T variant (also known as c.3290G>C), located in coding exon 20 of the SOS1 gene, results from a G to C substitution at nucleotide position 3290. The serine at codon 1097 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000156973 SCV000206695 uncertain significance Noonan syndrome 2012-06-15 no assertion criteria provided clinical testing

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