Submissions for variant NM_005633.4(SOS1):c.1626A>G (p.Ile542Met)

gnomAD frequency: 0.00001  dbSNP: rs746798986

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000373537	SCV000330630	uncertain significance	not provided	2016-07-04	criteria provided, single submitter	clinical testing	The I542M variant in the SOS1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The I542M variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The I542M variant is a conservative amino acid substitution, which occurs at a position where amino acids with similar properties to Isoleucine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret I542M as a variant of uncertain significance
Labcorp Genetics (formerly Invitae), Labcorp	RCV001859538	SCV002154752	likely benign	RASopathy	2023-05-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002467708	SCV002763394	uncertain significance	Noonan syndrome 4		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002467707	SCV002763395	uncertain significance	Fibromatosis, gingival, 1		criteria provided, single submitter	clinical testing