Submissions for variant NM_005633.4(SOS1):c.3857C>G (p.Ser1286Cys)

dbSNP: rs374341202

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000589019	SCV000698639	uncertain significance	not provided	2017-02-06	criteria provided, single submitter	clinical testing	Variant summary: : The SOS1 c.3857C>G (p.Ser1286Cys) variant involves the alteration of a conserved nucleotide and is predicted to be damaging by 3/5 in silico tools. The variant is located outside of some commonly known domains in the SOS1 protein (InterPro). This variant is absent in 121374 control chromosomes from ExAC. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories, nor evaluated for functional impact by in vivo/vitro studies. Another missense variant in the same residue, p.Ser1286Phe, has been classified as likely benign by a clinical lab in CinVar. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
AiLife Diagnostics, AiLife Diagnostics	RCV000589019	SCV002503481	uncertain significance	not provided	2020-07-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002467912	SCV002763187	uncertain significance	Noonan syndrome 4		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002467911	SCV002763189	uncertain significance	Fibromatosis, gingival, 1		criteria provided, single submitter	clinical testing