Submissions for variant NM_006939.4(SOS2):c.3490-13dup (rs10658395)

Total submissions: 3

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.
Invitae	RCV001515859	SCV001724026	benign	Noonan syndrome 9	2020-12-04	criteria provided, single submitter	clinical testing