Submissions for variant NM_006939.4(SOS2):c.3698A>C (p.Asn1233Thr)

gnomAD frequency: 0.00001  dbSNP: rs201756168

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV002047869	SCV002289061	likely benign	Noonan syndrome 9	2023-04-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002346278	SCV002621863	uncertain significance	Cardiovascular phenotype	2021-06-12	criteria provided, single submitter	clinical testing	The p.N1233T variant (also known as c.3698A>C), located in coding exon 23 of the SOS2 gene, results from an A to C substitution at nucleotide position 3698. The asparagine at codon 1233 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	RCV002047869	SCV002762982	uncertain significance	Noonan syndrome 9		criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV002047869	SCV003822089	uncertain significance	Noonan syndrome 9	2021-03-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003992601	SCV004811435	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	SOS2: BP4