ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3235A>G (p.Thr1079Ala)

gnomAD frequency: 0.00009  dbSNP: rs61755576
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000429991 SCV000510762 uncertain significance not provided 2016-09-28 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000607638 SCV000719304 likely benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000652817 SCV000774689 likely benign Noonan syndrome 9 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003168619 SCV003911934 uncertain significance Cardiovascular phenotype 2022-12-16 criteria provided, single submitter clinical testing The p.T1079A variant (also known as c.3235A>G), located in coding exon 20 of the SOS2 gene, results from an A to G substitution at nucleotide position 3235. The threonine at codon 1079 is replaced by alanine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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