Submissions for variant NM_005633.4(SOS1):c.3802G>A (p.Gly1268Ser)

gnomAD frequency: 0.00003  dbSNP: rs730881051

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000159183	SCV000209129	likely benign	not specified	2015-07-20	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000794937	SCV000934374	likely benign	RASopathy	2024-05-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002354181	SCV002620166	uncertain significance	Cardiovascular phenotype	2022-01-17	criteria provided, single submitter	clinical testing	The p.G1268S variant (also known as c.3802G>A), located in coding exon 23 of the SOS1 gene, results from a G to A substitution at nucleotide position 3802. The glycine at codon 1268 is replaced by serine, 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.