Submissions for variant NM_006939.4(SOS2):c.1976T>C (p.Leu659Ser)

gnomAD frequency: 0.00004  dbSNP: rs1391029692

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001050438	SCV001214545	likely benign	Noonan syndrome 9	2024-10-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002416379	SCV002719008	uncertain significance	Cardiovascular phenotype	2024-03-02	criteria provided, single submitter	clinical testing	The p.L659S variant (also known as c.1976T>C), located in coding exon 12 of the SOS2 gene, results from a T to C substitution at nucleotide position 1976. The leucine at codon 659 is replaced by serine, an amino acid with dissimilar 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.
Genome-Nilou Lab	RCV001050438	SCV002763060	uncertain significance	Noonan syndrome 9		criteria provided, single submitter	clinical testing
GeneDx	RCV005250127	SCV005901500	uncertain significance	not provided	2024-09-23	criteria provided, single submitter	clinical testing	In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge