Submissions for variant NM_005633.4(SOS1):c.1412G>C (p.Cys471Ser)

gnomAD frequency: 0.00001  dbSNP: rs397517151

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038517	SCV000062195	uncertain significance	not specified	2017-11-07	criteria provided, single submitter	clinical testing	The p.Cys471Ser variant in SOS1 has been identified by our laboratory in 1 indiv idual with clinical features of Noonan syndrome. It has also been identified in 1/22250 Finnish chromosomes by the Genome Aggregation Database (gnomAD, http://g nomad.broadinstitute.org/; dbSNP rs397517151). Computational prediction tools an d conservation analysis do not provide strong support for or against an impact t o the protein. In summary, the clinical significance of the p.Cys471Ser variant is uncertain. ACMG/AMP criteria applied: PM2, PS4_Supporting.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001813355	SCV002060898	uncertain significance	Noonan syndrome and Noonan-related syndrome	2018-09-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002467542	SCV002763412	uncertain significance	Noonan syndrome 4		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002467541	SCV002763413	uncertain significance	Fibromatosis, gingival, 1		criteria provided, single submitter	clinical testing