Submissions for variant NM_006939.4(SOS2):c.3075+7C>T

gnomAD frequency: 0.00743  dbSNP: rs144391749

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000589301	SCV000525684	benign	not provided	2016-11-17	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	RCV001086199	SCV000656022	benign	Noonan syndrome 9	2024-02-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000589301	SCV000698742	benign	not provided	2017-04-12	criteria provided, single submitter	clinical testing	Variant summary: The SOS2 c.3075+7C>T variant involves the alteration of a non-conserved intronic nucleotide. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 1055/121182 control chromosomes (including 7 homozygotes) from ExAC, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.011545 (770/66694). This frequency is about 4618 times the estimated maximal expected allele frequency of a pathogenic SOS2 variant (0.0000025), suggesting this is likely a benign polymorphism found primarily in the populations of European (Non-Finnish) origin. One clinical diagnostic laboratory has classified this variant as benign. The variant of interest has not, to our knowledge, been reported in literature. Taken together, this variant is classified as Benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001086199	SCV001471007	benign	Noonan syndrome 9	2023-08-23	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001813478	SCV002060671	benign	Noonan syndrome and Noonan-related syndrome	2021-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000589301	SCV002545174	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	SOS2: BP4, BS1, BS2
Genome-Nilou Lab	RCV001086199	SCV002763012	benign	Noonan syndrome 9		criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001706634	SCV001922832	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001706634	SCV001959203	benign	not specified		no assertion criteria provided	clinical testing