ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3520G>A (p.Ala1174Thr)

gnomAD frequency: 0.00004  dbSNP: rs935249167
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001213784 SCV001385434 benign Noonan syndrome 9 2023-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451466 SCV002613254 uncertain significance Cardiovascular phenotype 2022-06-06 criteria provided, single submitter clinical testing The p.A1174T variant (also known as c.3520G>A), located in coding exon 23 of the SOS2 gene, results from a G to A substitution at nucleotide position 3520. The alanine at codon 1174 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001213784 SCV002762991 uncertain significance Noonan syndrome 9 criteria provided, single submitter clinical testing

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