Submissions for variant NM_005633.4(SOS1):c.3838C>A (p.Gln1280Lys)

gnomAD frequency: 0.00002  dbSNP: rs548519280

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001556231	SCV001777772	likely benign	not provided	2023-01-10	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 29493581)
Labcorp Genetics (formerly Invitae), Labcorp	RCV002568360	SCV003014272	benign	RASopathy	2024-05-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003161090	SCV003863147	uncertain significance	Cardiovascular phenotype	2023-02-12	criteria provided, single submitter	clinical testing	The p.Q1280K variant (also known as c.3838C>A), located in coding exon 23 of the SOS1 gene, results from a C to A substitution at nucleotide position 3838. The glutamine at codon 1280 is replaced by lysine, 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.