Submissions for variant NM_006939.4(SOS2):c.3490-13dup

dbSNP: rs10658395

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000616838	SCV000731089	benign	not specified	2017-11-01	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000616838	SCV001361614	benign	not specified	2019-08-12	criteria provided, single submitter	clinical testing	Variant summary: SOS2 c.3490-4dupT alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.55 in 131430 control chromosomes, suggesting that it is the major allele and therefore benign. A ClinVar submission (evaluation after 2014) cite the variant as benign. Based on the evidence outlined above, the variant was classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001515859	SCV001724026	benign	Noonan syndrome 9	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001515859	SCV002057531	benign	Noonan syndrome 9	2021-07-15	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001813529	SCV002060674	benign	Noonan syndrome and Noonan-related syndrome	2021-04-16	criteria provided, single submitter	clinical testing